Varaico: Literature-Extracted Genetic Variants

BTNL2

108 papers

RefSeq Summary

This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involv...

Pfam Domains

V-setaa 33–142UCSCImmunoglobulin V-set domain

C2-set_3aa 144–230UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

V-setaa 250–359UCSCImmunoglobulin V-set domain

C2-set_3aa 361–447UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

Gene Aliases

HGNC Name

butyrophilin like 2

HGNC Alias Symbols

HSBLMHC1; BTL-II; BTN7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001304561.2

p.H191R

c.572A>G

Surrounding Variants

1 paper

NM_001304561.2

p.V188fs

c.562_563fs

1 paper

NM_001304561.2

p.V188L

c.562G>T

1 paper

NM_001304561.2

p.V188L

c.562G>C

13 papers

NM_001304561.2

p.K196E

c.586A>G

1 paper

NM_001304561.2

p.D197H

c.589G>C

1 paper

NM_001304561.2

p.D197N

c.589G>A

4 papers

NM_001304561.2

p.R181Q

c.542G>A

5 papers

NM_001304561.2

p.A202V

c.605C>T

1 paper

NM_001304561.2

p.V207M

c.619G>A

2 papers

NM_001304561.2

p.R209R

c.627G>A

2 papers

NM_001304561.2

p.P171P

c.513A>T

1 paper

NM_001304561.2

p.A166A

c.498A>G