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.F464I

c.1390T>A

Surrounding Variants

1 paper

NM_006994.5

p.E456*

c.1366G>T

1 paper

NM_006994.5

p.P455delFs

c.1364delC

1 paper

NM_006994.5

p.L445L

c.1335C>T

1 paper

NM_006994.5

p.I483I

c.1449C>A

1 paper

NM_006994.5

p.L445delFs

c.1334_1335delTC

3 papers

NM_006994.5

p.R443W

c.1327C>T

1 paper

NM_006994.5

p.K441*

c.1321A>T

1 paper

NM_006994.5

p.N440insFs

c.1320dupT

1 paper

NM_006994.5

p.A489T

c.1465G>A

1 paper

NM_006994.5

p.M434V

c.1300A>G

1 paper

NM_006994.5

p.G430*

c.1288G>T

1 paper

NM_006994.5

p.V498F

c.1492G>T