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

9 papers

NM_006994.5

p.W171*

c.513G>A

Surrounding Variants

9 papers

NM_006994.5

p.W171*

c.512G>A

1 paper

NM_006994.5

p.T169S

c.505A>T

1 paper

NM_006994.5

p.K183K

c.549G>A

1 paper

NM_006994.5

p.E158*

c.472G>T

1 paper

NM_006994.5

p.P193delFs

c.578delC

1 paper

NM_006994.5

p.R211I

c.632G>T

1 paper

NM_006994.5

p.N224D

c.670A>G

1 paper

NM_006994.5

p.L138L

c.414G>A

1 paper

NM_006994.5

p.V76M

c.226G>A

1 paper

NM_006994.5

p.R66K

c.197G>A

1 paper

NM_006994.5

p.A29P

c.85G>C

1 paper

NM_006994.5

p.Q22L

c.65A>T