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

3 papers

NM_001732.3

p.P521S

c.1561C>T

Surrounding Variants

1 paper

NM_001732.3

p.Q520*

c.1558C>T

1 paper

NM_001732.3

p.G524E

c.1571G>A

2 papers

NM_001732.3

p.P496S

c.1486C>T

1 paper

NM_001732.3

p.E494K

c.1480G>A

1 paper

NM_001732.3

p.R481W

c.1441A>T

1 paper

NM_001732.3

p.A476S

c.1426G>T

2 papers

NM_001732.3

p.K468R

c.1403A>G

1 paper

NM_001732.3

p.R457Q

c.1370G>A

1 paper

NM_001732.3

p.D432Y

c.1294G>T

1 paper

NM_001732.3

p.D427E

c.1281C>A

1 paper

NM_001732.3

p.D427E

c.1281C>G

1 paper

NM_001732.3

p.R421Q

c.1262G>A