Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R164L

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
2 papers
NM_000166.6
p.R164L
c.491G>T
Surrounding Variants
64 papers
NM_000166.6
p.R164Q
c.491G>A
1 paper
NM_000166.6
p.R164G
c.490C>G
48 papers
NM_000166.6
p.R164W
c.490C>T
1 paper
NM_000166.6
p.L165Q
c.494T>A
2 papers
NM_000166.6
p.L165P
c.494T>C
2 papers
NM_000166.6
p.V163M
c.487G>A
1 paper
NM_000166.6
p.M162T
c.485T>C
2 papers
NM_000166.6
p.V166G
c.497T>G
3 papers
NM_000166.6
p.M162L
c.484A>C
3 papers
NM_000166.6
p.M162L
c.484A>T
4 papers
NM_000166.6
p.K167E
c.499A>G
1 paper
NM_000166.6
p.M162insFs
c.484dupA
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