Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.R106*

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.R106*
c.316C>T
Surrounding Variants
1 paper
NM_005268.4
p.R106Q
c.317G>A
1 paper
NM_005268.4
p.E102del1
c.304_305delGAG
1 paper
NM_005268.4
p.E99K
c.295G>A
1 paper
NM_005268.4
p.R98Q
c.293G>A
2 papers
NM_005268.4
p.R98W
c.292C>T
1 paper
NM_005268.4
p.R115C
c.343C>T
2 papers
NM_005268.4
p.V95M
c.283G>A
1 paper
NM_005268.4
p.L90L
c.270C>T
1 paper
NM_005268.4
p.K123delFs
c.367delA
1 paper
NM_005268.4
p.K123K
c.369G>A
2 papers
NM_005268.4
p.R124Q
c.371G>A
3 papers
NM_005268.4
p.C86S
c.257G>C
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