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

Selected Variant

2 papers

NM_007048.6

p.S224N

c.671G>A

Surrounding Variants

1 paper

NM_007048.6

p.L227H

c.680T>A

1 paper

NM_007048.6

p.S236Y

c.707C>A

1 paper

NM_007048.6

p.D197H

c.589G>C

1 paper

NM_007048.6

p.P188Q

c.563C>A

1 paper

NM_007048.6

p.I187I

c.561C>A

1 paper

NM_007048.6

p.P173S

c.517C>T

1 paper

NM_007048.6

p.D153Y

c.457G>T

1 paper

NM_007048.6

p.V152L

c.454G>C

1 paper

NM_007048.6

p.P240P

c.720C>T

1 paper

NM_007048.6

p.F242L

c.724T>C

1 paper

NM_007048.6

p.F242L

c.726C>A

1 paper

NM_007048.6

p.F242L

c.726C>G