Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E146A

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.E146A
c.437A>C
Surrounding Variants
2 papers
NM_000166.6
p.E146K
c.436G>A
1 paper
NM_000166.6
p.E146Q
c.436G>C
1 paper
NM_000166.6
p.A147D
c.440C>A
1 paper
NM_000166.6
p.F145C
c.434T>G
2 papers
NM_000166.6
p.F145delFs
c.434delT
2 papers
NM_000166.6
p.L144W
c.431T>G
3 papers
NM_000166.6
p.F149I
c.445T>A
5 papers
NM_000166.6
p.F149L
c.445T>C
1 paper
NM_000166.6
p.F149V
c.445T>G
15 papers
NM_000166.6
p.L143P
c.428T>C
4 papers
NM_000166.6
p.F149L
c.447C>A
4 papers
NM_000166.6
p.F149L
c.447C>G
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