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.A166A

c.498A>G

Surrounding Variants

5 papers

NM_001304561.2

p.T165I

c.494C>T

2 papers

NM_001304561.2

p.P171P

c.513A>T

1 paper

NM_001304561.2

p.E153E

c.459G>A

4 papers

NM_001304561.2

p.R181Q

c.542G>A

3 papers

NM_001304561.2

p.H151fs

c.451_452fs

4 papers

NM_001304561.2

p.I150delFs

c.450delG

1 paper

NM_001304561.2

p.I150fs

c.448_449fs

1 paper

NM_001304561.2

p.I150N

c.449T>A

1 paper

NM_001304561.2

p.I150F

c.448A>T

2 papers

NM_001304561.2

p.S149N

c.446G>A

1 paper

NM_001304561.2

p.G145G

c.435G>T

1 paper

NM_001304561.2

p.V188L

c.562G>T