Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V38L

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
1 paper
NM_000166.6
p.V38L
c.112G>T
Surrounding Variants
20 papers
NM_000166.6
p.V38M
c.112G>A
3 papers
NM_000166.6
p.V38A
c.113T>C
2 papers
NM_000166.6
p.V37E
c.110T>A
1 paper
NM_000166.6
p.V37A
c.110T>C
6 papers
NM_000166.6
p.V37M
c.109G>A
10 papers
NM_000166.6
p.A39P
c.115G>C
6 papers
NM_000166.6
p.V37L
c.109G>C
7 papers
NM_000166.6
p.V37L
c.109G>T
2 papers
NM_000166.6
p.A39S
c.115G>T
1 paper
NM_000166.6
p.V37delFs
c.110delT
24 papers
NM_000166.6
p.A39V
c.116C>T
1 paper
NM_000166.6
p.V38_W44delFs
c.112_131del20
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."