Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R142Q

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
35 papers
NM_000166.6
p.R142Q
c.425G>A
Surrounding Variants
1 paper
NM_000166.6
p.L143del1
c.427_428delCTG
1 paper
NM_000166.6
p.R142G
c.424C>G
73 papers
NM_000166.6
p.R142W
c.424C>T
1 paper
NM_000166.6
p.R142fs
c.424_425fs
5 papers
NM_000166.6
p.F141L
c.423C>A
7 papers
NM_000166.6
p.F141L
c.423C>G
3 papers
NM_000166.6
p.L143_L144del1
c.428_430delTGT
15 papers
NM_000166.6
p.L143P
c.428T>C
1 paper
NM_000166.6
p.F141S
c.422T>C
2 papers
NM_000166.6
p.F141delFs
c.423delC
5 papers
NM_000166.6
p.F141L
c.421T>C
1 paper
NM_000166.6
p.F141fs
c.421_422fs
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