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

7 papers

NM_005514.8

p.T162K

c.485C>A

Surrounding Variants

4 papers

NM_005514.8

p.T162M

c.485C>T

1 paper

NM_005514.8

p.T162T

c.486G>C

1 paper

NM_005514.8

p.T162A

c.484A>G

1 paper

NM_005514.8

p.A163S

c.487G>T

2 papers

NM_005514.8

p.A163T

c.487G>A

1 paper

NM_005514.8

p.A163V

c.488C>T

11 papers

NM_005514.8

p.A163G

c.488C>G

1 paper

NM_005514.8

p.D161V

c.482A>T

1 paper

NM_005514.8

p.D161insFs

c.481dupG

1 paper

NM_005514.8

p.A163A

c.489G>A

1 paper

NM_005514.8

p.A159_A163del0

c.477_488del12

1 paper

NM_005514.8

p.A164_Q165insT

c.490_494ins3