Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.A40S

GJB1

948 papers

RefSeq Summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions...

Pfam Domains

Connexinaa 2–214UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 1

HGNC Previous Symbols

CMTX1; CMTX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000166.6
p.A40S
c.118G>T
Surrounding Variants
1 paper
NM_000166.6
p.A40T
c.118G>A
2 papers
NM_000166.6
p.A40E
c.119C>A
3 papers
NM_000166.6
p.A40G
c.119C>G
17 papers
NM_000166.6
p.A40V
c.119C>T
1 paper
NM_000166.6
p.S42delFs
c.124_125delAG
1 paper
NM_000166.6
p.A39A
c.117T>G
24 papers
NM_000166.6
p.A39V
c.116C>T
3 papers
NM_000166.6
p.E41K
c.121G>A
10 papers
NM_000166.6
p.A39P
c.115G>C
2 papers
NM_000166.6
p.A39S
c.115G>T
1 paper
NM_000166.6
p.E41*
c.121G>T
1 paper
NM_000166.6
p.E41A
c.122A>C
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