Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.S245*

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.S245*
c.734C>A
Surrounding Variants
1 paper
NM_005268.4
p.P257L
c.770C>T
1 paper
NM_005268.4
p.H229R
c.686A>G
1 paper
NM_005268.4
p.R265P
c.794G>C
1 paper
NM_005268.4
p.V209L
c.625G>C
1 paper
NM_005268.4
p.V209L
c.625G>T
1 paper
NM_005268.4
p.E204A
c.611A>C
1 paper
NM_005268.4
p.I196V
c.586A>G
2 papers
NM_005268.4
p.M190L
c.568A>C
2 papers
NM_005268.4
p.M190L
c.568A>T
1 paper
NM_005268.4
p.I185L
c.553A>C
1 paper
NM_005268.4
p.C169W
c.507T>G
1 paper
NM_005268.4
p.P159P
c.477T>G
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