Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S258F

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.S258F
c.773C>T
Surrounding Variants
1 paper
NM_000166.6
p.L259delFs
c.775delC
1 paper
NM_000166.6
p.L259insFs
c.776dupT
1 paper
NM_000166.6
p.K260E
c.778A>G
1 paper
NM_000166.6
p.K260fs
c.778_779fs
1 paper
NM_000166.6
p.K260R
c.779A>G
1 paper
NM_000166.6
p.D261_I262delFs
c.783_784delCA
1 paper
NM_000166.6
p.S253N
c.758G>A
4 papers
NM_000166.6
p.R264C
c.790C>T
3 papers
NM_000166.6
p.R264L
c.791G>T
1 paper
NM_000166.6
p.R264R
c.792C>T
1 paper
NM_000166.6
p.K250R
c.749A>G
1 paper
NM_000166.6
p.P267delFs
c.800delC
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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."