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.S121_M122insFs

c.363_364insG

Surrounding Variants

10 papers

NM_005514.8

p.S121R

c.363C>G

10 papers

NM_005514.8

p.S121R

c.363C>A

1 paper

NM_005514.8

p.S121delins

c.362_363delinsAT

2 papers

NM_005514.8

p.S121delins

c.362_363delinsCG

1 paper

NM_005514.8

p.S121delins

c.361_363delinsGTG

5 papers

NM_005514.8

p.S121T

c.362G>C

5 papers

NM_005514.8

p.S121N

c.362G>A

1 paper

NM_005514.8

p.M122fs

c.364_365fs

2 papers

NM_005514.8

p.M122T

c.365T>C

10 papers

NM_005514.8

p.S121R

c.361A>C

1 paper

NM_005514.8

p.Q120H

c.360G>T

1 paper

NM_005514.8

p.Q120fs

c.358_359fs