Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.C86S

GJB5

101 papers

RefSeq Summary

This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and en...

Pfam Domains

Connexinaa 2–210UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 5

HGNC Alias Symbol

CX31.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005268.4
p.C86S
c.257G>C
Surrounding Variants
1 paper
NM_005268.4
p.P87del1
c.259_260delCCC
3 papers
NM_005268.4
p.C86S
c.256T>A
1 paper
NM_005268.4
p.T85P
c.253A>C
1 paper
NM_005268.4
p.L90L
c.270C>T
1 paper
NM_005268.4
p.L81delFs
c.242delT
1 paper
NM_005268.4
p.L79fs
c.235_236fs
1 paper
NM_005268.4
p.L79delFs
c.235delC
2 papers
NM_005268.4
p.V95M
c.283G>A
1 paper
NM_005268.4
p.W77R
c.229T>A
1 paper
NM_005268.4
p.W77R
c.229T>C
3 papers
NM_005268.4
p.R75C
c.223C>T
2 papers
NM_005268.4
p.R98W
c.292C>T
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