Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.K123delFs

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.K123delFs
c.367delA
Surrounding Variants
1 paper
NM_005268.4
p.K123K
c.369G>A
2 papers
NM_005268.4
p.R124Q
c.371G>A
1 paper
NM_005268.4
p.R115C
c.343C>T
4 papers
NM_005268.4
p.F137L
c.409T>C
4 papers
NM_005268.4
p.F137L
c.411C>A
4 papers
NM_005268.4
p.F137L
c.411C>G
1 paper
NM_005268.4
p.K138K
c.414G>A
1 paper
NM_005268.4
p.R106Q
c.317G>A
1 paper
NM_005268.4
p.R106*
c.316C>T
1 paper
NM_005268.4
p.A139V
c.416C>T
1 paper
NM_005268.4
p.V141M
c.421G>A
1 paper
NM_005268.4
p.E102del1
c.304_305delGAG
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