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

3 papers

NM_001304561.2

p.V313V

c.939A>G

Surrounding Variants

1 paper

NM_001304561.2

p.R311W

c.931A>T

1 paper

NM_001304561.2

p.D320D

c.960C>T

1 paper

NM_001304561.2

p.V300A

c.899T>C

5 papers

NM_001304561.2

p.M295V

c.883A>G

7 papers

NM_001304561.2

p.S334L

c.1001C>T

1 paper

NM_001304561.2

p.S334W

c.1001C>G

9 papers

NM_001304561.2

p.D336N

c.1006G>A

1 paper

NM_001304561.2

p.P289P

c.867T>A

1 paper

NM_001304561.2

p.G337G

c.1011G>A

1 paper

NM_001304561.2

p.Y288insFs

c.862_863ins16

1 paper

NM_001304561.2

p.R340H

c.1019G>A

1 paper

NM_001304561.2

p.R284*

c.850C>T