Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R32L

GJB2

2,928 papers

RefSeq Summary

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting ...

Pfam Domains

Connexinaa 2–215UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 2

HGNC Previous Symbols

DFNB1; DFNA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_004004.6
p.R32L
c.95G>T
Surrounding Variants
1 paper
NM_004004.6
p.R32P
c.95G>C
75 papers
NM_004004.6
p.R32H
c.95G>A
1 paper
NM_004004.6
p.R32delFs
c.94delG
74 papers
NM_004004.6
p.R32C
c.94C>T
5 papers
NM_004004.6
p.R32G
c.94C>G
11 papers
NM_004004.6
p.R32S
c.94C>A
1 paper
NM_004004.6
p.F31delFs
c.93delA
2 papers
NM_004004.6
p.F31L
c.93T>G
2 papers
NM_004004.6
p.F31L
c.93T>A
1 paper
NM_004004.6
p.I33F
c.97A>T
1 paper
NM_004004.6
p.I33V
c.97A>G
1 paper
NM_004004.6
p.I33L
c.97A>C
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