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.D98H

c.292G>C

Surrounding Variants

5 papers

NM_005514.8

p.D98Y

c.292G>T

1 paper

NM_005514.8

p.D98G

c.293A>G

2 papers

NM_005514.8

p.T97I

c.290C>T

1 paper

NM_005514.8

p.T97N

c.290C>A

1 paper

NM_005514.8

p.I90_T97del0

c.269_289del21

1 paper

NM_005514.8

p.R99*

c.295C>T

2 papers

NM_005514.8

p.T97A

c.289A>G

2 papers

NM_005514.8

p.R99L

c.296G>T

2 papers

NM_005514.8

p.R99Q

c.296G>A

1 paper

NM_005514.8

p.Q96L

c.287A>T

1 paper

NM_005514.8

p.Q96fs

c.286_287fs

1 paper

NM_005514.8

p.Q96*

c.286C>T