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

6 papers

NM_005514.8

p.V306I

c.916G>A

Surrounding Variants

1 paper

NM_005514.8

p.S304C

c.911C>G

2 papers

NM_005514.8

p.S304P

c.910T>C

1 paper

NM_005514.8

p.I308T

c.923T>C

1 paper

NM_005514.8

p.I308I

c.924C>T

1 paper

NM_005514.8

p.Q303R

c.908A>G

1 paper

NM_005514.8

p.Q303delFs

c.907delG

1 paper

NM_005514.8

p.V309L

c.925G>T

1 paper

NM_005514.8

p.Q303fs

c.907_908fs

1 paper

NM_005514.8

p.V309fs

c.925_926fs

1 paper

NM_005514.8

p.V309V

c.927G>A

2 papers

NM_005514.8

p.S302F

c.905C>T

1 paper

NM_005514.8

p.G310delFs

c.930delG