Varaico: Literature-Extracted Genetic Variants

Gene:BTN2A2
Variant:p.R72Q

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
V-setaa 38–147UCSCImmunoglobulin V-set domain
V-setaa 38–147UCSCImmunoglobulin V-set domain
C2-set_3aa 149–235UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain
C2-set_3aa 149–235UCSCButyrophilin subfamily 3 member A2-like, Ig-C 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.R72Q
c.215G>A
Surrounding Variants
1 paper
NM_006995.5
p.R69Q
c.206G>A
1 paper
NM_006995.5
p.S76C
c.227C>G
1 paper
NM_006995.5
p.M66I
c.198G>A
1 paper
NM_006995.5
p.M66I
c.198G>C
1 paper
NM_006995.5
p.M66I
c.198G>T
1 paper
NM_006995.5
p.E60D
c.180G>C
1 paper
NM_006995.5
p.E60D
c.180G>T
1 paper
NM_006995.5
p.E87K
c.259G>A
1 paper
NM_006995.5
p.R54H
c.161G>A
1 paper
NM_006995.5
p.E94K
c.280G>A
1 paper
NM_006995.5
p.T101I
c.302C>T
1 paper
NM_006995.5
p.A40S
c.118G>T
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