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

2 papers

NM_001304561.2

p.H414H

c.1242C>T

Surrounding Variants

1 paper

NM_001304561.2

p.G412S

c.1234G>A

2 papers

NM_001304561.2

p.S404S

c.1212A>C

1 paper

NM_001304561.2

p.T401M

c.1202C>T

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

5 papers

NM_001304561.2

p.P393Q

c.1178C>A

1 paper

NM_001304561.2

p.H391H

c.1173C>T

1 paper

NM_001304561.2

p.E444K

c.1330G>A

1 paper

NM_001304561.2

p.A448T

c.1342G>A

4 papers

NM_001304561.2

p.M380I

c.1140G>T

4 papers

NM_001304561.2

p.M380I

c.1140G>C