Varaico: Literature-Extracted Genetic Variants

BTN1A1

60 papers

RefSeq Summary

Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene ...

Pfam Domains

V-setaa 33–142UCSCImmunoglobulin V-set domain

C2-set_3aa 144–230UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

PRYaa 305–353UCSCSPRY-associated domain

SPRYaa 357–472UCSCSPRY domain

Gene Aliases

HGNC Name

butyrophilin subfamily 1 member A1

HGNC Alias Symbols

BT; BTN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001732.3

p.F353L

c.1059C>A

Surrounding Variants

1 paper

NM_001732.3

p.F353L

c.1059C>G

1 paper

NM_001732.3

p.F353L

c.1057T>C

1 paper

NM_001732.3

p.R350C

c.1048C>T

1 paper

NM_001732.3

p.S343C

c.1028C>G

1 paper

NM_001732.3

p.D369N

c.1105G>A

2 papers

NM_001732.3

p.G373S

c.1117G>A

1 paper

NM_001732.3

p.R331H

c.992G>A

1 paper

NM_001732.3

p.R326R

c.976C>A

1 paper

NM_001732.3

p.R326*

c.976C>T

1 paper

NM_001732.3

p.D321Y

c.961G>T

1 paper

NM_001732.3

p.H315R

c.944A>G

1 paper

NM_001732.3

p.V303A

c.908T>C