Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.I71delFs

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.I71delFs
c.211delA
Surrounding Variants
1 paper
NM_024009.3
p.I71_R75delFs
c.212_224del13
1 paper
NM_024009.3
p.P70T
c.208C>A
1 paper
NM_024009.3
p.I71_R75delFs
c.211_223del13
1 paper
NM_024009.3
p.S72_N73insFs
c.216_217insA
1 paper
NM_024009.3
p.N73_I74delFs
c.217_221del5
1 paper
NM_024009.3
p.Y68insFs
c.203_204insC
1 paper
NM_024009.3
p.N73K
c.219C>A
1 paper
NM_024009.3
p.N73K
c.219C>G
2 papers
NM_024009.3
p.N67N
c.201C>T
1 paper
NM_024009.3
p.I74delFs
c.220delA
1 paper
NM_024009.3
p.D66E
c.198C>A
1 paper
NM_024009.3
p.D66E
c.198C>G
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