Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.K104E

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.K104E
c.310A>G
Surrounding Variants
1 paper
NM_000166.6
p.K104T
c.311A>C
1 paper
NM_000166.6
p.K104R
c.311A>G
1 paper
NM_000166.6
p.K104_L108delFs
c.310_323del14
1 paper
NM_000166.6
p.K103_K104insA
c.307_311ins3
3 papers
NM_000166.6
p.K103E
c.307A>G
29 papers
NM_000166.6
p.E102G
c.305A>G
1 paper
NM_000166.6
p.E102insFs
c.305dupA
3 papers
NM_000166.6
p.E102*
c.304G>T
1 paper
NM_000166.6
p.E102fs
c.304_305fs
19 papers
NM_000166.6
p.E102del1
c.304_305delGAG
3 papers
NM_000166.6
p.L106P
c.317T>C
1 paper
NM_000166.6
p.L106_G110delFs
c.318_330del13
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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."