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.W75C

c.225G>T

Surrounding Variants

2 papers

NM_005514.8

p.W75C

c.225G>C

2 papers

NM_005514.8

p.W75*

c.225G>A

3 papers

NM_005514.8

p.W75*

c.224G>A

3 papers

NM_005514.8

p.I76V

c.226A>G

1 paper

NM_005514.8

p.I76K

c.227T>A

1 paper

NM_005514.8

p.P74P

c.222G>A

3 papers

NM_005514.8

p.I76M

c.228A>G

1 paper

NM_005514.8

p.E70_P74del0

c.209_220del12

1 paper

NM_005514.8

p.E77V

c.230A>T

1 paper

NM_005514.8

p.A73fs

c.217_218fs

2 papers

NM_005514.8

p.A73A

c.219G>A

3 papers

NM_005514.8

p.Q78*

c.232C>T