Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C211fs

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
3 papers
NM_004004.6
p.C211fs
c.631_632fs
Surrounding Variants
2 papers
NM_004004.6
p.C211S
c.631T>A
2 papers
NM_004004.6
p.C211S
c.632G>C
6 papers
NM_004004.6
p.C211Y
c.632G>A
1 paper
NM_004004.6
p.L210del1
c.628_630delCAA
2 papers
NM_004004.6
p.C211fs
c.631_632fs
4 papers
NM_004004.6
p.C211*
c.633T>A
7 papers
NM_004004.6
p.C211delFs
c.632_633delAC
1 paper
NM_004004.6
p.L213M
c.637T>A
1 paper
NM_004004.6
p.E209*
c.625G>T
5 papers
NM_004004.6
p.L213S
c.638T>C
2 papers
NM_004004.6
p.L213*
c.638T>A
1 paper
NM_004004.6
p.L213F
c.639G>T
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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."