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.T88T

c.264A>G

Surrounding Variants

1 paper

NM_005514.8

p.T88_Q89ins7

c.264_265ins21

3 papers

NM_005514.8

p.Q89E

c.265C>G

2 papers

NM_005514.8

p.Q89R

c.266A>G

4 papers

NM_005514.8

p.N87K

c.261C>G

3 papers

NM_005514.8

p.N87K

c.261C>A

1 paper

NM_005514.8

p.N87delins

c.259_261delinsGAG

1 paper

NM_005514.8

p.I90T

c.269T>C

2 papers

NM_005514.8

p.I90N

c.269T>A

4 papers

NM_005514.8

p.N87D

c.259A>G

2 papers

NM_005514.8

p.N87H

c.259A>C

1 paper

NM_005514.8

p.R86fs

c.256_257fs

2 papers

NM_005514.8

p.I90M

c.270C>G