Varaico: Literature-Extracted Genetic Variants

HLA-B

1,133 papers

RefSeq Summary

HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the...

Pfam Domains

MHC_Iaa 25–203UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

C1-setaa 211–290UCSCImmunoglobulin C1-set domain

MHC_I_Caa 337–362UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, B

HGNC Previous Name

ankylosing spondylitis

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005514.8

p.Y123*

c.369C>A

Surrounding Variants

2 papers

NM_005514.8

p.Y123Y

c.369C>T

1 paper

NM_005514.8

p.Y123*

c.369C>G

1 paper

NM_005514.8

p.G124R

c.370G>C

1 paper

NM_005514.8

p.G124S

c.370G>A

6 papers

NM_005514.8

p.Y123F

c.368A>T

1 paper

NM_005514.8

p.Y123C

c.368A>G

3 papers

NM_005514.8

p.Y123S

c.368A>C

2 papers

NM_005514.8

p.M122I

c.366G>A

1 paper

NM_005514.8

p.G124delFs

c.371delC

1 paper

NM_005514.8

p.C125G

c.373T>G

2 papers

NM_005514.8

p.M122T

c.365T>C

1 paper

NM_005514.8

p.M122fs

c.364_365fs