Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.P87del1

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
2 papers
NM_024009.3
p.P87del1
c.259_260delCCC
Surrounding Variants
33 papers
NM_024009.3
p.C86S
c.257G>C
33 papers
NM_024009.3
p.C86S
c.256T>A
1 paper
NM_024009.3
p.P87S
c.259C>T
5 papers
NM_024009.3
p.T85P
c.253A>C
1 paper
NM_024009.3
p.V84A
c.251T>C
24 papers
NM_024009.3
p.V84I
c.250G>A
6 papers
NM_024009.3
p.V84L
c.250G>C
1 paper
NM_024009.3
p.V84_T85insC
c.250_254ins3
4 papers
NM_024009.3
p.F83L
c.249C>A
5 papers
NM_024009.3
p.F83L
c.249C>G
1 paper
NM_024009.3
p.F83F
c.249C>T
1 paper
NM_024009.3
p.L89delFs
c.266delT
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