Varaico: Literature-Extracted Genetic Variants

Gene:GJB7
Variant:p.S88L

GJB7

47 papers

RefSeq Summary

Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking...

Pfam Domains

Connexinaa 2–203UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 7

HGNC Alias Symbols

CX25; bA136M9.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198568.3
p.S88L
c.263C>T
Surrounding Variants
1 paper
NM_198568.3
p.L90V
c.268C>G
1 paper
NM_198568.3
p.V84V
c.252C>T
1 paper
NM_198568.3
p.V84F
c.250G>T
1 paper
NM_198568.3
p.Q80R
c.239A>G
1 paper
NM_198568.3
p.Q80P
c.239A>C
1 paper
NM_198568.3
p.Y97C
c.290A>G
1 paper
NM_198568.3
p.A78V
c.233C>T
1 paper
NM_198568.3
p.W77R
c.229T>C
1 paper
NM_198568.3
p.W77R
c.229T>A
1 paper
NM_198568.3
p.I71_Q73delFs
c.212_218del7
1 paper
NM_198568.3
p.I71fs
c.211_212fs
1 paper
NM_198568.3
p.H105P
c.314A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."