Varaico: Literature-Extracted Genetic Variants

Gene:VTCN1
Variant:p.S65C

VTCN1

41 papers

RefSeq Summary

This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors...

Pfam Domains

V-setaa 40–147UCSCImmunoglobulin V-set domain
V-setaa 40–147UCSCImmunoglobulin V-set domain
C2-set_3aa 150–235UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

Gene Aliases

HGNC Name

V-set domain containing T cell activation inhibitor 1

HGNC Alias Symbols

B7-H4; FLJ22418; B7S1; B7x; B7H4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024626.4
p.S65C
c.194C>G
Surrounding Variants
1 paper
NM_024626.4
p.L64P
c.191T>C
1 paper
NM_024626.4
p.I69T
c.206T>C
1 paper
NM_024626.4
p.L77*
c.230T>G
1 paper
NM_024626.4
p.L77*
c.230T>A
1 paper
NM_024626.4
p.G46E
c.137G>A
1 paper
NM_024626.4
p.G86C
c.256G>T
1 paper
NM_024626.4
p.E89D
c.267G>T
1 paper
NM_024626.4
p.E89D
c.267G>C
1 paper
NM_024626.4
p.L90fs
c.268_269fs
1 paper
NM_024626.4
p.L90insFs
c.268_269ins4
1 paper
NM_024626.4
p.E92Q
c.274G>C
1 paper
NM_024626.4
p.F97Y
c.290T>A
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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."