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

1–12 of 114 variants

13 papers

NM_001304561.2

p.K196E

c.586A>G

9 papers

NM_001304561.2

p.D336N

c.1006G>A

8 papers

NM_001304561.2

p.S360G

c.1078A>G

7 papers

NM_001304561.2

p.S334L

c.1001C>T

7 papers

NM_001304561.2

p.S360G

c.1078A>G

6 papers

NM_001304561.2

p.R281K

c.842G>A

5 papers

NM_001304561.2

p.D118N

c.352G>A

5 papers

NM_001304561.2

p.T165I

c.494C>T

5 papers

NM_001304561.2

p.A202V

c.605C>T

5 papers

NM_001304561.2

p.M295V

c.883A>G

5 papers

NM_001304561.2

p.P379L

c.1136C>T

5 papers

NM_001304561.2

p.M380I

c.1140G>A