Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.D66A

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
1 paper
NM_005268.4
p.D66A
c.197A>C
Surrounding Variants
6 papers
NM_005268.4
p.D66H
c.196G>C
1 paper
NM_005268.4
p.D66E
c.198T>A
1 paper
NM_005268.4
p.D66E
c.198T>G
1 paper
NM_005268.4
p.C60F
c.179G>T
2 papers
NM_005268.4
p.H73R
c.218A>G
2 papers
NM_005268.4
p.G59A
c.176G>C
3 papers
NM_005268.4
p.G59S
c.175G>A
2 papers
NM_005268.4
p.G59R
c.175G>C
1 paper
NM_005268.4
p.P58P
c.174C>T
3 papers
NM_005268.4
p.R75C
c.223C>T
1 paper
NM_005268.4
p.R56C
c.166C>T
1 paper
NM_005268.4
p.W77R
c.229T>A
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