Varaico: Literature-Extracted Genetic Variants

BTN3A1

58 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 394–506UCSCSPRY domain

Gene Aliases

HGNC Name

butyrophilin subfamily 3 member A1

HGNC Alias Symbols

BT3.1; BTF5; CD277; BTN3.1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

4 papers

NM_007048.6

p.R15H

c.44G>A

3 papers

NM_007048.6

p.R282T

c.845G>C

3 papers

NM_007048.6

p.P456T

c.1366C>A

2 papers

NM_007048.6

p.V68V

c.204G>A

2 papers

NM_007048.6

p.S224N

c.671G>A

2 papers

NM_007048.6

p.A251T

c.751G>A

1 paper

NM_007048.6

p.M1V

c.1A>G

1 paper

NM_007048.6

p.F6L

c.16T>C

1 paper

NM_007048.6

p.F6L

c.18C>A

1 paper

NM_007048.6

p.F6L

c.18C>G

1 paper

NM_007048.6

p.L7R

c.20T>G

1 paper

NM_007048.6

p.F9L

c.25T>C