Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.K220M

GJB3

709 papers

RefSeq Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of...

Pfam Domains

Connexinaa 2–211UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 3

HGNC Previous Symbols

DFNA2; EKV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024009.3
p.K220M
c.659A>T
Surrounding Variants
1 paper
NM_024009.3
p.D221A
c.662A>C
2 papers
NM_024009.3
p.K222_C227del0
c.664_681del18
1 paper
NM_024009.3
p.P223_S228del0
c.667_684del18
4 papers
NM_024009.3
p.P223T
c.667C>A
1 paper
NM_024009.3
p.P223A
c.667C>G
1 paper
NM_024009.3
p.P223S
c.667C>T
1 paper
NM_024009.3
p.P223L
c.668C>T
4 papers
NM_024009.3
p.L218_D221del0
c.652_663del12
1 paper
NM_024009.3
p.G217insFs
c.649_650insC
1 paper
NM_024009.3
p.G217_D221del5
c.649_662del15
1 paper
NM_024009.3
p.R224*
c.670C>T
1 paper
NM_024009.3
p.R216Q
c.647G>A
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