Varaico: Literature-Extracted Genetic Variants

Gene:DYSF

DYSF

737 papers

RefSeq Summary

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that p...

Pfam Domains

C2aa 1–102UCSCC2 domain
C2aa 220–323UCSCC2 domain
C2aa 220–323UCSCC2 domain
FerIaa 324–374UCSCFerI (NUC094) domain
FerIaa 324–374UCSCFerI (NUC094) domain
C2aa 379–496UCSCC2 domain

Gene Aliases

HGNC Name

dysferlin

HGNC Previous Symbol

LGMD2B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 2022 variants
23 papers
NM_003494.4
p.W999C
c.2997G>T
20 papers
NM_003494.4
p.R1905*
c.5713C>T
19 papers
NM_003494.4
p.W926delFs
c.2777delG
18 papers
NM_001130987.2
p.G927delFs
c.2779delG
18 papers
NM_003494.4
p.W999C
c.2997G>C
18 papers
NM_003494.4
p.R2042C
c.6124C>T
17 papers
NM_001130987.2
p.E1993insFs
c.5979dupA
16 papers
NM_003494.4
p.R959W
c.2875C>T
15 papers
NM_001130987.2
p.T170N
c.509C>A
13 papers
NM_003494.4
p.R204*
c.610C>T
13 papers
NM_003494.4
p.R313Splc
c.937+1G>A
13 papers
NM_001130987.2
p.P1038S
c.3112C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."