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

11 papers

NM_005514.8

p.T55A

c.163A>G

Surrounding Variants

1 paper

NM_005514.8

p.T55S

c.163A>T

1 paper

NM_005514.8

p.T55S

c.164C>G

1 paper

NM_005514.8

p.T55insFs

c.164_165insT

1 paper

NM_005514.8

p.T55T

c.165C>G

1 paper

NM_005514.8

p.T55fs

c.163_164fs

6 papers

NM_005514.8

p.D54G

c.161A>G

7 papers

NM_005514.8

p.Q56L

c.167A>T

1 paper

NM_005514.8

p.Q56delFs

c.166delG

1 paper

NM_005514.8

p.T55_Q56delins

c.165_167delinsGCT

2 papers

NM_005514.8

p.F57L

c.169T>C

1 paper

NM_005514.8

p.F57C

c.170T>G

2 papers

NM_005514.8

p.F57L

c.171C>G