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

2 papers

NM_006995.5

p.E303A

c.908A>C

Surrounding Variants

1 paper

NM_006995.5

p.G298G

c.894G>T

3 papers

NM_006995.5

p.Q311Splc

c.931+1G>A

1 paper

NM_006995.5

p.K294delFs

c.881delA

1 paper

NM_006995.5

p.S262S

c.786T>C

1 paper

NM_006995.5

p.S247T

c.740G>C

1 paper

NM_006995.5

p.L313F

c.937C>T

1 paper

NM_006995.5

p.R318*

c.952C>T

2 papers

NM_006995.5

p.R318Splc

c.952+1G>A

1 paper

NM_006995.5

p.R318Splc

c.952+1G>T

2 papers

NM_006995.5

p.S222T

c.664T>A

2 papers

NM_006995.5

p.G203S

c.607G>A

1 paper

NM_006995.5

p.A192S

c.574G>T