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

2 papers

NM_005514.8

p.A65A

c.195G>A

Surrounding Variants

4 papers

NM_005514.8

p.A65T

c.193G>A

1 paper

NM_005514.8

p.S66N

c.197G>A

1 paper

NM_005514.8

p.A64A

c.192C>T

1 paper

NM_005514.8

p.P67S

c.199C>T

1 paper

NM_005514.8

p.P67P

c.201G>A

1 paper

NM_005514.8

p.D63E

c.189C>G

2 papers

NM_005514.8

p.D63E

c.189C>A

1 paper

NM_005514.8

p.D63A

c.188A>C

1 paper

NM_005514.8

p.R68K

c.203G>A

1 paper

NM_005514.8

p.S62S

c.186C>T

5 papers

NM_005514.8

p.R68fs

c.202_203fs

2 papers

NM_005514.8

p.E69K

c.205G>A