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.K92N

c.276G>T

Surrounding Variants

1 paper

NM_005514.8

p.K92fs

c.274_275fs

3 papers

NM_005514.8

p.A93P

c.277G>C

6 papers

NM_005514.8

p.A93T

c.277G>A

1 paper

NM_005514.8

p.K92R

c.275A>G

2 papers

NM_005514.8

p.A93G

c.278C>G

1 paper

NM_005514.8

p.A93delins

c.277_278delinsCG

1 paper

NM_005514.8

p.Y91*

c.273C>G

1 paper

NM_005514.8

p.A93_Q94insFs

c.279_280insTC

1 paper

NM_005514.8

p.Y91fs

c.271_272fs

5 papers

NM_005514.8

p.A93_Q94insFs

c.279_280insAA

1 paper

NM_005514.8

p.Y91*

c.273C>A

3 papers

NM_005514.8

p.Q94fs

c.280_281fs