Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.D66A

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
1 paper
NM_000166.6
p.D66A
c.197A>C
Surrounding Variants
1 paper
NM_000166.6
p.D66E
c.198C>A
1 paper
NM_000166.6
p.D66E
c.198C>G
7 papers
NM_000166.6
p.D66N
c.196G>A
12 papers
NM_000166.6
p.D66H
c.196G>C
3 papers
NM_000166.6
p.Y65*
c.195T>A
3 papers
NM_000166.6
p.Y65*
c.195T>G
1 paper
NM_000166.6
p.D66del1
c.196_197delGAC
8 papers
NM_000166.6
p.Y65C
c.194A>G
4 papers
NM_000166.6
p.Y65H
c.193T>C
1 paper
NM_000166.6
p.C64*
c.192C>A
12 papers
NM_000166.6
p.C64Y
c.191G>A
3 papers
NM_000166.6
p.C64S
c.191G>C
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