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.Q111R

c.332A>G

Surrounding Variants

1 paper

NM_005514.8

p.N110delFs

c.330delG

1 paper

NM_005514.8

p.Q111Q

c.333G>A

2 papers

NM_005514.8

p.Q111*

c.331C>T

1 paper

NM_005514.8

p.N110fs

c.328_329fs

2 papers

NM_005514.8

p.S112C

c.334A>T

1 paper

NM_005514.8

p.S112G

c.334A>G

3 papers

NM_005514.8

p.S112R

c.334A>C

7 papers

NM_005514.8

p.N110I

c.329A>T

1 paper

NM_005514.8

p.N110S

c.329A>G

1 paper

NM_005514.8

p.N110T

c.329A>C

3 papers

NM_005514.8

p.S112R

c.336C>G

1 paper

NM_005514.8

p.S112fs

c.334_335fs