Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L106_G110delFs

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.L106_G110delFs
c.318_330del13
Surrounding Variants
3 papers
NM_000166.6
p.L106P
c.317T>C
20 papers
NM_000166.6
p.R107W
c.319C>T
1 paper
NM_000166.6
p.R107Q
c.320G>A
1 paper
NM_000166.6
p.R107L
c.320G>T
1 paper
NM_000166.6
p.K104T
c.311A>C
1 paper
NM_000166.6
p.K104R
c.311A>G
3 papers
NM_000166.6
p.L108P
c.323T>C
1 paper
NM_000166.6
p.K104E
c.310A>G
1 paper
NM_000166.6
p.E109K
c.325G>A
2 papers
NM_000166.6
p.E109*
c.325G>T
1 paper
NM_000166.6
p.K104_L108delFs
c.310_323del14
1 paper
NM_000166.6
p.E109V
c.326A>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."