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

1–12 of 83 variants

4 papers

NM_007049.5

p.W178C

c.534G>T

4 papers

NM_007049.5

p.V207M

c.619G>A

4 papers

NM_007049.5

p.R378Q

c.1133G>A

3 papers

NM_007049.5

p.R124C

c.370C>T

3 papers

NM_007049.5

p.G146S

c.436G>A

3 papers

NM_007049.5

p.W178L

c.533G>T

3 papers

NM_007049.5

p.W178C

c.534G>C

3 papers

NM_007049.5

p.G451A

c.1352G>C

2 papers

NM_007049.5

p.M1I

c.3G>A

2 papers

NM_007049.5

p.M1I

c.3G>C

2 papers

NM_007049.5

p.M1I

c.3G>T

2 papers

NM_007049.5

p.P172S

c.514C>T