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.T504A

c.1510A>G

Surrounding Variants

1 paper

NM_007049.5

p.V509A

c.1526T>C

1 paper

NM_007049.5

p.F487S

c.1460T>C

1 paper

NM_007049.5

p.G522G

c.1566G>A

1 paper

NM_007049.5

p.P483H

c.1448C>A

1 paper

NM_001197233.3

p.F419fs

c.1255_1256fs

1 paper

NM_001197233.3

p.F419delFs

c.1255delT

1 paper

NM_007049.5

p.S462_F463del1

c.1386_1388delCTT

1 paper

NM_007049.5

p.S462_F463del2

c.1384_1388del6

1 paper

NM_007049.5

p.D455G

c.1364A>G

1 paper

NM_007049.5

p.G451G

c.1353C>T

3 papers

NM_007049.5

p.G451A

c.1352G>C

1 paper

NM_007049.5

p.Q430H

c.1290A>C