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.G115R

c.343G>C

Surrounding Variants

3 papers

NM_005514.8

p.G115R

c.343G>A

2 papers

NM_005514.8

p.G115Splc

c.343+1G>A

2 papers

NM_005514.8

p.A114D

c.341C>A

1 paper

NM_005514.8

p.A114S

c.340G>T

2 papers

NM_005514.8

p.E113D

c.339G>T

1 paper

NM_005514.8

p.E113fs

c.337_338fs

2 papers

NM_005514.8

p.E113D

c.339G>C

1 paper

NM_005514.8

p.E113K

c.337G>A

3 papers

NM_005514.8

p.S112R

c.336C>G

1 paper

NM_005514.8

p.S112fs

c.334_335fs

3 papers

NM_005514.8

p.S112R

c.336C>A

2 papers

NM_005514.8

p.S112C

c.334A>T