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

1–12 of 59 variants

3 papers

NM_001732.3

p.V303Splc

c.908-1G>A

3 papers

NM_001732.3

p.P521S

c.1561C>T

2 papers

NM_001732.3

p.P35Q

c.104C>A

2 papers

NM_001732.3

p.E292D

c.876A>C

2 papers

NM_001732.3

p.E292D

c.876A>T

2 papers

NM_001732.3

p.G373S

c.1117G>A

2 papers

NM_001732.3

p.K468R

c.1403A>G

2 papers

NM_001732.3

p.P496S

c.1486C>T

1 paper

NM_001732.3

p.M1K

c.2T>A

1 paper

NM_001732.3

p.F4L

c.10T>C

1 paper

NM_001732.3

p.F4L

c.12C>A

1 paper

NM_001732.3

p.F4L

c.12C>G