Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L273fs

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.L273fs
c.817_818fs
Surrounding Variants
1 paper
NM_000166.6
p.A271P
c.811G>C
1 paper
NM_000166.6
p.A271fs
c.811_812fs
2 papers
NM_000166.6
p.L273insFs
c.818_819ins5
1 paper
NM_000166.6
p.K276T
c.827A>C
1 paper
NM_000166.6
p.K276R
c.827A>G
1 paper
NM_000166.6
p.A271delFs
c.811delG
2 papers
NM_000166.6
p.T269N
c.806C>A
1 paper
NM_000166.6
p.D278_C280del0
c.832_840del9
1 paper
NM_000166.6
p.S277N
c.830G>A
1 paper
NM_000166.6
p.G268A
c.803G>C
1 paper
NM_000166.6
p.G268fs
c.802_803fs
1 paper
NM_000166.6
p.R279insFs
c.835dupC
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