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.R30R

c.90G>A

Surrounding Variants

1 paper

NM_005514.8

p.Y31D

c.91T>G

2 papers

NM_005514.8

p.Y31S

c.92A>C

1 paper

NM_005514.8

p.Y31delins

c.92delinsACCC

1 paper

NM_005514.8

p.Y31Y

c.93T>C

1 paper

NM_005514.8

p.M29I

c.87G>T

1 paper

NM_005514.8

p.M29I

c.87G>C

1 paper

NM_005514.8

p.M29I

c.87G>A

1 paper

NM_005514.8

p.M29R

c.86T>G

1 paper

NM_005514.8

p.F32Y

c.95T>A

1 paper

NM_005514.8

p.S28fs

c.82_83fs

4 papers

NM_005514.8

p.Y33D

c.97T>G

5 papers

NM_005514.8

p.Y33H

c.97T>C