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.N113H

c.337A>C

Surrounding Variants

1 paper

NM_001304561.2

p.A108V

c.323C>T

5 papers

NM_001304561.2

p.D118N

c.352G>A

1 paper

NM_001304561.2

p.G120R

c.358G>A

1 paper

NM_001304561.2

p.Q121*

c.361C>T

1 paper

NM_001304561.2

p.V95V

c.285A>T

1 paper

NM_001304561.2

p.N130N

c.390C>T

3 papers

NM_001304561.2

p.W94R

c.280T>C

4 papers

NM_001304561.2

p.W94R

c.280T>A

1 paper

NM_001304561.2

p.M88L

c.262A>T

1 paper

NM_001304561.2

p.G80R

c.238G>A

1 paper

NM_001304561.2

p.W65*

c.195G>A

1 paper

NM_001304561.2

p.W65*

c.194G>A