Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.F149I

GJB1

948 papers

RefSeq Summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions...

Pfam Domains

Connexinaa 2–214UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 1

HGNC Previous Symbols

CMTX1; CMTX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000166.6
p.F149I
c.445T>A
Surrounding Variants
5 papers
NM_000166.6
p.F149L
c.445T>C
1 paper
NM_000166.6
p.F149V
c.445T>G
4 papers
NM_000166.6
p.F149L
c.447C>A
4 papers
NM_000166.6
p.F149L
c.447C>G
1 paper
NM_000166.6
p.M150V
c.448A>G
1 paper
NM_000166.6
p.A147D
c.440C>A
2 papers
NM_000166.6
p.Y151H
c.451T>C
1 paper
NM_000166.6
p.Y151S
c.452A>C
7 papers
NM_000166.6
p.Y151C
c.452A>G
1 paper
NM_000166.6
p.E146A
c.437A>C
1 paper
NM_000166.6
p.Y151*
c.453T>G
1 paper
NM_000166.6
p.V152delFs
c.454delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."