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

7 papers

NM_001304561.2

p.S360G

c.1078A>G

Surrounding Variants

2 papers

NM_001304561.2

p.G371E

c.1112G>A

1 paper

NM_001304561.2

p.D374N

c.1120G>A

5 papers

NM_001304561.2

p.P379L

c.1136C>T

4 papers

NM_001304561.2

p.M380I

c.1140G>T

4 papers

NM_001304561.2

p.M380I

c.1140G>C

5 papers

NM_001304561.2

p.M380I

c.1140G>A

1 paper

NM_001304561.2

p.P379_M380delins

c.1136_1140delinsTGATA

1 paper

NM_001304561.2

p.H391H

c.1173C>T

5 papers

NM_001304561.2

p.P393Q

c.1178C>A

2 papers

NM_001304561.2

p.P393P

c.1179A>G

1 paper

NM_001304561.2

p.P393fs

c.1177_1178fs

1 paper

NM_001304561.2

p.P393delins

c.1178_1179delinsAG