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.K79T

c.236A>C

Surrounding Variants

1 paper

NM_007049.5

p.Y78C

c.233A>G

1 paper

NM_007049.5

p.E91D

c.273G>C

1 paper

NM_007049.5

p.E91D

c.273G>T

1 paper

NM_007049.5

p.E63A

c.188A>C

1 paper

NM_007049.5

p.E56K

c.166G>A

1 paper

NM_007049.5

p.P55L

c.164C>T

1 paper

NM_007049.5

p.S107I

c.320G>T

1 paper

NM_007049.5

p.R50L

c.149G>T

1 paper

NM_007049.5

p.T48P

c.142A>C

1 paper

NM_007049.5

p.I112T

c.335T>C

1 paper

NM_007049.5

p.T42_V43ins9

c.124_128ins27

1 paper

NM_007049.5

p.T42_V43ins12

c.124_128ins36