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

4 papers

NM_005514.8

p.A329V

c.986C>T

Surrounding Variants

1 paper

NM_005514.8

p.V326_A329ins1

c.977_985dup9

1 paper

NM_005514.8

p.A329S

c.985G>T

1 paper

NM_005514.8

p.A329P

c.985G>C

12 papers

NM_005514.8

p.A329T

c.985G>A

1 paper

NM_005514.8

p.A328T

c.982G>A

4 papers

NM_005514.8

p.M331V

c.991A>G

1 paper

NM_005514.8

p.V326V

c.978G>A

1 paper

NM_005514.8

p.R333S

c.999G>T

1 paper

NM_005514.8

p.R333S

c.999G>C

1 paper

NM_005514.8

p.R334W

c.1000A>T

1 paper

NM_005514.8

p.G324V

c.971G>T

1 paper

NM_005514.8

p.G324fs

c.970_971fs