Varaico: Literature-Extracted Genetic Variants

BTN2A2

68 papers

RefSeq Summary

Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. Th...

Pfam Domains

V-setaa 38–147UCSCImmunoglobulin V-set domain

C2-set_3aa 149–235UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

Gene Aliases

HGNC Name

butyrophilin subfamily 2 member A2

HGNC Alias Symbols

BTF2; BT2.2; BTN2.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006995.5

p.Y460*

c.1380C>G

Surrounding Variants

1 paper

NM_006995.5

p.Y460*

c.1380C>A

1 paper

NM_006995.5

p.S474P

c.1420T>C

1 paper

NM_006995.5

p.T477S

c.1429A>T

1 paper

NM_006995.5

p.T477S

c.1430C>G

1 paper

NM_006995.5

p.P438L

c.1313C>T

1 paper

NM_006995.5

p.G487R

c.1459G>A

1 paper

NM_006995.5

p.G487R

c.1459G>C

1 paper

NM_006995.5

p.D489N

c.1465G>A

1 paper

NM_006995.5

p.N425fs

c.1273_1274fs

1 paper

NM_006995.5

p.G504W

c.1510G>T

1 paper

NM_006995.5

p.M506T

c.1517T>C

1 paper

NM_006995.5

p.H382L

c.1145A>T