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.G324fs

c.970_971fs

Surrounding Variants

1 paper

NM_005514.8

p.G324V

c.971G>T

3 papers

NM_005514.8

p.I323T

c.968T>C

1 paper

NM_005514.8

p.V322A

c.965T>C

1 paper

NM_005514.8

p.V326V

c.978G>A

1 paper

NM_005514.8

p.V321M

c.961G>A

1 paper

NM_005514.8

p.L318_V320del0

c.954_959del6

1 paper

NM_005514.8

p.A328T

c.982G>A

2 papers

NM_005514.8

p.A319V

c.956C>T

1 paper

NM_005514.8

p.A319E

c.956C>A

1 paper

NM_005514.8

p.A329S

c.985G>T

1 paper

NM_005514.8

p.A319_V320insCC

c.955_959ins6

1 paper

NM_005514.8

p.A319_V320ins4

c.955_959ins12