Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N14S

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
5 papers
NM_000166.6
p.N14S
c.41A>G
Surrounding Variants
1 paper
NM_000166.6
p.N14fs
c.40_41fs
3 papers
NM_000166.6
p.N14H
c.40A>C
5 papers
NM_000166.6
p.N14D
c.40A>G
8 papers
NM_000166.6
p.N14Y
c.40A>T
6 papers
NM_000166.6
p.N14K
c.42C>A
6 papers
NM_000166.6
p.N14K
c.42C>G
1 paper
NM_000166.6
p.R15insFs
c.43_44insT
51 papers
NM_000166.6
p.R15W
c.43C>T
1 paper
NM_000166.6
p.V13V
c.39G>C
48 papers
NM_000166.6
p.R15Q
c.44G>A
6 papers
NM_000166.6
p.R15L
c.44G>T
2 papers
NM_000166.6
p.R15delins
c.44_45delinsTT
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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."