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.N110T

c.329A>C

Surrounding Variants

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.N110fs

c.328_329fs

1 paper

NM_005514.8

p.N110Y

c.328A>T

2 papers

NM_005514.8

p.Q111*

c.331C>T

1 paper

NM_005514.8

p.Y109*

c.327C>G

1 paper

NM_005514.8

p.Y109*

c.327C>A

1 paper

NM_005514.8

p.Q111R

c.332A>G

1 paper

NM_005514.8

p.N110delFs

c.330delG

1 paper

NM_005514.8

p.Y109N

c.325T>A

1 paper

NM_005514.8

p.Q111Q

c.333G>A

1 paper

NM_005514.8

p.Y108*

c.324C>G