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.L119L

c.357C>T

Surrounding Variants

1 paper

NM_005514.8

p.L119Fs

c.357delinsTGGFs

1 paper

NM_005514.8

p.L119_Q120insFs

c.357_358insGG

2 papers

NM_005514.8

p.L119fs

c.355_356fs

1 paper

NM_005514.8

p.L119delins

c.355_357delinsTGG

1 paper

NM_005514.8

p.T118_L119delins

c.354_357delinsTTGG

1 paper

NM_005514.8

p.L119R

c.356T>G

4 papers

NM_005514.8

p.T118_L119delFs

c.354_355delGG

1 paper

NM_005514.8

p.T118_L119delins

c.354_356delinsTTG

1 paper

NM_005514.8

p.Q120fs

c.358_359fs

1 paper

NM_005514.8

p.Q120*

c.358C>T

1 paper

NM_005514.8

p.Q120E

c.358C>G

1 paper

NM_005514.8

p.L119F

c.355C>T