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

1–12 of 60 variants

4 papers

NM_006995.5

p.A336T

c.1006G>A

3 papers

NM_006995.5

p.A4V

c.11C>T

3 papers

NM_006995.5

p.P39A

c.115C>G

3 papers

NM_006995.5

p.Q311Splc

c.931+1G>A

2 papers

NM_006995.5

p.P3L

c.8C>T

2 papers

NM_006995.5

p.V112M

c.334G>A

2 papers

NM_006995.5

p.G203S

c.607G>A

2 papers

NM_006995.5

p.S222T

c.664T>A

2 papers

NM_006995.5

p.E303A

c.908A>C

2 papers

NM_006995.5

p.R318Splc

c.952+1G>A

1 paper

NM_006995.5

p.L7L

c.21G>A

1 paper

NM_006995.5

p.L16V

c.46C>G