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.R132R

c.396C>T

Surrounding Variants

1 paper

NM_005514.8

p.R132R

c.396C>G

1 paper

NM_005514.8

p.R132fs

c.394_395fs

1 paper

NM_005514.8

p.R132R

c.396C>A

2 papers

NM_005514.8

p.R132L

c.395G>T

1 paper

NM_005514.8

p.L133F

c.397C>T

1 paper

NM_005514.8

p.R132_L133delFs

c.396_397delGG

1 paper

NM_005514.8

p.R132C

c.394C>T

1 paper

NM_005514.8

p.R132G

c.394C>G

1 paper

NM_005514.8

p.L134P

c.401T>C

3 papers

NM_005514.8

p.D130D

c.390C>T

1 paper

NM_005514.8

p.L134delFs

c.402delG

2 papers

NM_005514.8

p.P129P

c.387G>C