Varaico: Literature-Extracted Genetic Variants

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

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

1–12 of 41 variants

2 papers

NM_024626.4

p.R100G

c.298C>G

1 paper

NM_024626.4

p.L4L

c.12G>C

1 paper

NM_024626.4

p.L8P

c.23T>C

1 paper

NM_024626.4

p.W10*

c.29G>A

1 paper

NM_024626.4

p.W10*

c.30G>A

1 paper

NM_024626.4

p.S11Splc

c.33-3049T>C

1 paper

NM_024626.4

p.G33Splc

c.97+150A>G

1 paper

NM_024626.4

p.G33W

c.97G>T

1 paper

NM_024626.4

p.G46E

c.137G>A

1 paper

NM_024626.4

p.L64P

c.191T>C

1 paper

NM_024626.4

p.S65C

c.194C>G

1 paper

NM_024626.4

p.I69T

c.206T>C