Varaico: Literature-Extracted Genetic Variants

BTN3A3

54 papers

RefSeq Summary

The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intrace...

Pfam Domains

V-setaa 35–144UCSCImmunoglobulin V-set domain

C2-set_3aa 146–232UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

PRYaa 342–390UCSCSPRY-associated domain

SPRYaa 394–507UCSCSPRY domain

Gene Aliases

HGNC Name

butyrophilin subfamily 3 member A3

HGNC Alias Symbol

BTN3.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006994.5

p.W380*

c.1140G>A

Surrounding Variants

1 paper

NM_006994.5

p.W380*

c.1139G>A

1 paper

NM_006994.5

p.R381H

c.1142G>A

1 paper

NM_006994.5

p.P375S

c.1123C>T

1 paper

NM_006994.5

p.R364S

c.1090C>A

1 paper

NM_006994.5

p.R364C

c.1090C>T

1 paper

NM_006994.5

p.Q359*

c.1075C>T

1 paper

NM_006994.5

p.W407*

c.1220G>A

1 paper

NM_006994.5

p.W407*

c.1221G>A

2 papers

NM_006994.5

p.V416M

c.1246G>A

1 paper

NM_006994.5

p.G421delFs

c.1262delG

1 paper

NM_006994.5

p.G421V

c.1262G>T

1 paper

NM_006994.5

p.W422*

c.1265G>A