Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I213L

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.I213L
c.637A>C
Surrounding Variants
3 papers
NM_000166.6
p.I213V
c.637A>G
1 paper
NM_000166.6
p.I213M
c.639C>G
2 papers
NM_000166.6
p.L212H
c.635T>A
1 paper
NM_000166.6
p.L212R
c.635T>G
1 paper
NM_000166.6
p.I214insFs
c.641dupT
1 paper
NM_000166.6
p.I214ins0
c.640_642dupATC
3 papers
NM_000166.6
p.L212F
c.634C>T
2 papers
NM_000166.6
p.I214del1
c.640_641delATC
7 papers
NM_000166.6
p.Y211*
c.633C>A
7 papers
NM_000166.6
p.Y211*
c.633C>G
3 papers
NM_000166.6
p.I214N
c.641T>A
39 papers
NM_000166.6
p.R215W
c.643C>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."