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

5 papers

NM_005514.8

p.Q94K

c.280C>A

Surrounding Variants

3 papers

NM_005514.8

p.Q94fs

c.280_281fs

1 paper

NM_005514.8

p.A93_Q94insFs

c.279_280insTC

5 papers

NM_005514.8

p.A93_Q94insFs

c.279_280insAA

7 papers

NM_005514.8

p.Q94H

c.282G>T

6 papers

NM_005514.8

p.Q94fs

c.280_281fs

8 papers

NM_005514.8

p.Q94H

c.282G>C

1 paper

NM_005514.8

p.Q94delins

c.280_282delinsAAC

2 papers

NM_005514.8

p.A93G

c.278C>G

1 paper

NM_005514.8

p.A93delins

c.277_278delinsCG

3 papers

NM_005514.8

p.A93P

c.277G>C

8 papers

NM_005514.8

p.A95T

c.283G>A

6 papers

NM_005514.8

p.A93T

c.277G>A