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.L154L

c.460C>T

Surrounding Variants

2 papers

NM_005514.8

p.D153D

c.459C>T

2 papers

NM_005514.8

p.R155C

c.463C>T

11 papers

NM_005514.8

p.R155S

c.463C>A

2 papers

NM_005514.8

p.E152fs

c.454_455fs

3 papers

NM_005514.8

p.E152V

c.455A>T

2 papers

NM_005514.8

p.E152*

c.454G>T

1 paper

NM_005514.8

p.N151_E152insFs

c.453_454insC

1 paper

NM_005514.8

p.N151N

c.453C>T

2 papers

NM_005514.8

p.N151K

c.453C>G

1 paper

NM_005514.8

p.N151K

c.453C>A

1 paper

NM_005514.8

p.W157R

c.469T>C

1 paper

NM_005514.8

p.W157R

c.469T>A