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

4 papers

NM_005514.8

p.E69fs

c.205_206fs

Surrounding Variants

2 papers

NM_005514.8

p.E69K

c.205G>A

4 papers

NM_005514.8

p.R68delFs

c.204delT

2 papers

NM_005514.8

p.R68_E69delins

c.204_205delinsGA

4 papers

NM_005514.8

p.E69V

c.206A>T

2 papers

NM_005514.8

p.E69G

c.206A>G

3 papers

NM_005514.8

p.E69A

c.206A>C

1 paper

NM_005514.8

p.E69insFs

c.206_207insT

4 papers

NM_005514.8

p.E69insFs

c.206_207insC

5 papers

NM_005514.8

p.R68fs

c.202_203fs

1 paper

NM_005514.8

p.E69delFs

c.205delC

1 paper

NM_005514.8

p.R68_E69delins

c.204_206delinsGAT

2 papers

NM_005514.8

p.R68_E69delins

c.204_206delinsGAC