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.F4L

c.10T>C

Surrounding Variants

1 paper

NM_001732.3

p.F4L

c.12C>A

1 paper

NM_001732.3

p.F4L

c.12C>G

1 paper

NM_001732.3

p.M1K

c.2T>A

1 paper

NM_001732.3

p.D25H

c.73G>C

1 paper

NM_001732.3

p.A27Splc

c.80-18C>A

2 papers

NM_001732.3

p.P35Q

c.104C>A

1 paper

NM_001732.3

p.P35L

c.104C>T

1 paper

NM_001732.3

p.A46T

c.136G>A

1 paper

NM_001732.3

p.L48Q

c.143T>A

1 paper

NM_001732.3

p.P72A

c.214C>G

1 paper

NM_001732.3

p.A95T

c.283G>A

1 paper

NM_001732.3

p.D100N

c.298G>A