Varaico: Literature-Extracted Genetic Variants

Gene:GJB2

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
1–12 of 1702 variants
1452 papers
NM_004004.6
p.G12delFs
c.35delC
917 papers
NM_004004.6
p.L79delFs
c.235delG
714 papers
NM_004004.6
p.V37I
c.109G>A
528 papers
NM_004004.6
p.L56delFs
c.167delA
429 papers
NM_004004.6
p.M34T
c.101T>C
358 papers
NM_004004.6
p.R143W
c.427C>T
314 papers
NM_004004.6
p.W24*
c.71G>A
282 papers
NM_004004.6
p.W24*
c.72G>A
270 papers
NM_004004.6
p.V27I
c.79G>A
244 papers
NM_004004.6
p.L90P
c.269T>C
240 papers
NM_004004.6
p.H100delFs
c.299_300delAT
220 papers
NM_004004.6
p.G45E
c.134G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."