The DYSF gene homepage

General information
Gene symbol DYSF
Gene name dysferlin
Chromosome 2
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_008694.1
Transcript reference NM_001130455.1, NM_001130976.1, NM_001130977.1, NM_001130978.1, NM_001130979.1, NM_001130980.1, NM_001130981.1, NM_001130982.1, NM_001130983.1, NM_001130984.1, NM_001130985.1, NM_001130986.1, NM_001130987.1, NM_003494.3
Associated with diseases LGMD2B
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 6
Date created April 11, 2021

Links to other resources
HGNC 3097
Entrez Gene 8291
PubMed articles DYSF
OMIM - Gene 603009
OMIM - Diseases LGMD2B (Muscular Dystrophy, Limv Girdle, Type 2B)
GeneCards DYSF
GeneTests DYSF

Active transcripts




NCBI ID     

NCBI Protein ID     

00000470 2 transcript variant 1 NM_001130987.1 NP_001124459.1 0
00000471 2 transcript variant 10 NM_001130977.1 NP_001124449.1 0
00000472 2 transcript variant 11 NM_001130978.1 NP_001124450.1 0
00000473 2 transcript variant 12 NM_001130979.1 NP_001124451.1 0
00000474 2 transcript variant 13 NM_001130980.1 NP_001124452.1 0
00000475 2 transcript variant 14 NM_001130981.1 NP_001124453.1 0
00000476 2 transcript variant 2 NM_001130455.1 NP_001123927.1 0
00000477 2 transcript variant 3 NM_001130986.1 NP_001124458.1 0
00000478 2 transcript variant 4 NM_001130985.1 NP_001124457.1 0
00000479 2 transcript variant 5 NM_001130984.1 NP_001124456.1 0
00000480 2 transcript variant 6 NM_001130983.1 NP_001124455.1 0
00000481 2 transcript variant 7 NM_001130982.1 NP_001124454.1 0
00000482 2 transcript variant 8 NM_003494.3 NP_003485.1 0
00000483 2 transcript variant 9 NM_001130976.1 NP_001124448.1 0

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