Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I127M

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
4 papers
NM_000166.6
p.I127M
c.381C>G
Surrounding Variants
3 papers
NM_000166.6
p.I127N
c.380T>A
2 papers
NM_000166.6
p.I127T
c.380T>C
2 papers
NM_000166.6
p.S128P
c.382T>C
6 papers
NM_000166.6
p.I127S
c.380T>G
4 papers
NM_000166.6
p.I127L
c.379A>C
3 papers
NM_000166.6
p.I127V
c.379A>G
10 papers
NM_000166.6
p.I127F
c.379A>T
3 papers
NM_000166.6
p.S128*
c.383C>A
3 papers
NM_000166.6
p.S128*
c.383C>G
6 papers
NM_000166.6
p.S128L
c.383C>T
1 paper
NM_000166.6
p.G129R
c.385G>C
2 papers
NM_000166.6
p.H126Y
c.376C>T
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