Varaico: Literature-Extracted Genetic Variants

Gene:PVR
Variant:p.P301L

PVR

124 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronec...

Pfam Domains

V-setaa 32–142UCSCImmunoglobulin V-set domain
C2-set_2aa 147–232UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

PVR cell adhesion molecule

HGNC Previous Symbol

PVS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006505.5
p.P301L
c.902C>T
Surrounding Variants
1 paper
NM_006505.5
p.R300C
c.898C>T
1 paper
NM_006505.5
p.A320V
c.959C>T
1 paper
NM_006505.5
p.S341A
c.1021T>G
1 paper
NM_006505.5
p.R372C
c.1114C>T
1 paper
NM_006505.5
p.R372L
c.1115G>T
1 paper
NM_006505.5
p.C378G
c.1132T>G
1 paper
NM_006505.5
p.A390D
c.1169C>A
2 papers
NM_006505.5
p.N271S
c.812A>G
1 paper
NM_006505.5
p.L264R
c.791T>G
1 paper
NM_006505.5
p.Y398F
c.1193A>T
1 paper
NM_006505.5
p.T239T
c.717C>T
1 paper
NM_006505.5
p.L238F
c.712C>T
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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."