Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E102*

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.E102*
c.304G>T
Surrounding Variants
1 paper
NM_000166.6
p.E102insFs
c.305dupA
1 paper
NM_000166.6
p.E102fs
c.304_305fs
29 papers
NM_000166.6
p.E102G
c.305A>G
19 papers
NM_000166.6
p.E102del1
c.304_305delGAG
1 paper
NM_000166.6
p.I101insFs
c.303dupA
1 paper
NM_000166.6
p.K103_K104insA
c.307_311ins3
3 papers
NM_000166.6
p.K103E
c.307A>G
2 papers
NM_000166.6
p.I101fs
c.301_302fs
6 papers
NM_000166.6
p.H100Q
c.300C>A
6 papers
NM_000166.6
p.H100Q
c.300C>G
1 paper
NM_000166.6
p.I101delFs
c.302_303delTA
1 paper
NM_000166.6
p.H100P
c.299A>C
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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."