Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I28T

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
3 papers
NM_000166.6
p.I28T
c.83T>C
Surrounding Variants
1 paper
NM_000166.6
p.I28N
c.83T>A
1 paper
NM_000166.6
p.I28delFs
c.84delC
2 papers
NM_000166.6
p.I28fs
c.82_83fs
2 papers
NM_000166.6
p.I28L
c.82A>C
2 papers
NM_000166.6
p.F29Y
c.86T>A
2 papers
NM_000166.6
p.V27A
c.80T>C
10 papers
NM_000166.6
p.V27I
c.79G>A
1 paper
NM_000166.6
p.R32ins2
c.94_95ins6
1 paper
NM_000166.6
p.I30_F31insGGA
c.88_92ins9
1 paper
NM_000166.6
p.I30insFs
c.89_90insT
1 paper
NM_000166.6
p.I30V
c.88A>G
1 paper
NM_000166.6
p.I30F
c.88A>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."