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

1–12 of 67 variants

9 papers

NM_006994.5

p.W171*

c.512G>A

9 papers

NM_006994.5

p.W171*

c.513G>A

3 papers

NM_006994.5

p.R443W

c.1327C>T

2 papers

NM_006994.5

p.V416M

c.1246G>A

1 paper

NM_006994.5

p.L7R

c.20T>G

1 paper

NM_006994.5

p.H15R

c.44A>G

1 paper

NM_006994.5

p.F19L

c.55T>C

1 paper

NM_006994.5

p.F19L

c.57C>A

1 paper

NM_006994.5

p.F19L

c.57C>G

1 paper

NM_006994.5

p.Q22L

c.65A>T

1 paper

NM_006994.5

p.A29P

c.85G>C

1 paper

NM_006994.5

p.R66K

c.197G>A