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.D340E

c.1020T>G

Surrounding Variants

1 paper

NM_007049.5

p.D340E

c.1020T>A

1 paper

NM_007049.5

p.D340Y

c.1018G>T

4 papers

NM_007049.5

p.R378Q

c.1133G>A

1 paper

NM_007049.5

p.F381L

c.1141T>C

1 paper

NM_007049.5

p.F381L

c.1143C>A

1 paper

NM_007049.5

p.F381L

c.1143C>G

1 paper

NM_007049.5

p.N394Y

c.1180A>T

1 paper

NM_007049.5

p.Q430P

c.1289A>C

1 paper

NM_007049.5

p.Q430H

c.1290A>C

1 paper

NM_007049.5

p.Q430H

c.1290A>T

3 papers

NM_007049.5

p.G451A

c.1352G>C

1 paper

NM_007049.5

p.G451G

c.1353C>T