Varaico: Literature-Extracted Genetic Variants

BTN2A1

63 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chrom...

Pfam Domains

V-setaa 34–143UCSCImmunoglobulin V-set domain

C2-set_3aa 145–231UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

PRYaa 330–381UCSCSPRY-associated domain

Gene Aliases

HGNC Name

butyrophilin subfamily 2 member A1

HGNC Alias Symbols

BT2.1; BTF1; BTN2.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007049.5

p.M194V

c.580A>G

Surrounding Variants

1 paper

NM_007049.5

p.L189V

c.565C>G

1 paper

NM_007049.5

p.F201L

c.601T>C

1 paper

NM_007049.5

p.F201L

c.603C>A

1 paper

NM_007049.5

p.F201L

c.603C>G

4 papers

NM_007049.5

p.V207M

c.619G>A

1 paper

NM_007049.5

p.V207V

c.621G>A

3 papers

NM_007049.5

p.W178C

c.534G>C

4 papers

NM_007049.5

p.W178C

c.534G>T

3 papers

NM_007049.5

p.W178L

c.533G>T

2 papers

NM_007049.5

p.W178delins

c.533_534delinsTT

1 paper

NM_007049.5

p.T176K

c.527C>A

1 paper

NM_007049.5

p.V214M

c.640G>A