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.E27Splc

c.80-1G>A

Surrounding Variants

1 paper

NM_001304561.2

p.D28V

c.83A>T

1 paper

NM_001304561.2

p.P34H

c.101C>A

1 paper

NM_001304561.2

p.I38L

c.112A>C

1 paper

NM_001304561.2

p.I38M

c.114C>G

1 paper

NM_001304561.2

p.A40S

c.118G>T

2 papers

NM_001304561.2

p.C50R

c.148T>C

1 paper

NM_001304561.2

p.P54L

c.161C>T

2 papers

NM_001304561.2

p.H60H

c.180C>T

1 paper

NM_001304561.2

p.V61M

c.181G>A

1 paper

NM_001304561.2

p.W65*

c.194G>A

1 paper

NM_001304561.2

p.W65*

c.195G>A

1 paper

NM_001304561.2

p.G80R

c.238G>A