Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.P223S

GJB3

709 papers

RefSeq Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...

Pfam Domains

Connexinaa 2–211UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 3

HGNC Previous Symbols

DFNA2; EKV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024009.3
p.P223S
c.667C>T
Surrounding Variants
4 papers
NM_024009.3
p.P223T
c.667C>A
1 paper
NM_024009.3
p.P223A
c.667C>G
1 paper
NM_024009.3
p.P223L
c.668C>T
1 paper
NM_024009.3
p.P223_S228del0
c.667_684del18
1 paper
NM_024009.3
p.R224*
c.670C>T
1 paper
NM_024009.3
p.D221A
c.662A>C
2 papers
NM_024009.3
p.K222_C227del0
c.664_681del18
1 paper
NM_024009.3
p.K220M
c.659A>T
1 paper
NM_024009.3
p.G226G
c.678T>C
1 paper
NM_024009.3
p.S228R
c.684C>A
4 papers
NM_024009.3
p.L218_D221del0
c.652_663del12
2 papers
NM_024009.3
p.P229_S230insGC
c.685_689ins6
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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."