Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T191A

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.T191A
c.571A>G
Surrounding Variants
7 papers
NM_000166.6
p.T191fs
c.571_572fs
1 paper
NM_000166.6
p.T191_M194del0
c.573_581del9
1 paper
NM_000166.6
p.V192F
c.574G>T
4 papers
NM_000166.6
p.V189I
c.565G>A
2 papers
NM_000166.6
p.F193L
c.577T>C
1 paper
NM_000166.6
p.F193S
c.578T>C
2 papers
NM_000166.6
p.F193C
c.578T>G
2 papers
NM_000166.6
p.F193L
c.579C>A
2 papers
NM_000166.6
p.F193L
c.579C>G
3 papers
NM_000166.6
p.T188I
c.563C>T
6 papers
NM_000166.6
p.T188A
c.562A>G
3 papers
NM_000166.6
p.M194V
c.580A>G
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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."