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.Q78R

c.233A>G

Surrounding Variants

1 paper

NM_005514.8

p.Q78Q

c.234G>A

3 papers

NM_005514.8

p.Q78*

c.232C>T

1 paper

NM_005514.8

p.Q78E

c.232C>G

1 paper

NM_005514.8

p.E77V

c.230A>T

1 paper

NM_005514.8

p.G80R

c.238G>C

27 papers

NM_005514.8

p.G80R

c.238G>A

3 papers

NM_005514.8

p.I76M

c.228A>G

1 paper

NM_005514.8

p.I76K

c.227T>A

2 papers

NM_005514.8

p.G80E

c.239G>A

1 paper

NM_005514.8

p.G80fs

c.238_239fs

3 papers

NM_005514.8

p.I76V

c.226A>G

2 papers

NM_005514.8

p.W75C

c.225G>T