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.Y195insFs

c.584dupA

Surrounding Variants

1 paper

NM_005514.8

p.Y195Y

c.585C>T

4 papers

NM_005514.8

p.Y195H

c.583T>C

1 paper

NM_005514.8

p.E197K

c.589G>A

1 paper

NM_005514.8

p.R194G

c.580A>G

1 paper

NM_005514.8

p.R193P

c.578G>C

1 paper

NM_005514.8

p.R193delFs

c.577delG

2 papers

NM_005514.8

p.N198H

c.592A>C

1 paper

NM_005514.8

p.R193fs

c.577_578fs

1 paper

NM_005514.8

p.G199W

c.595G>T

1 paper

NM_005514.8

p.G199R

c.595G>C

1 paper

NM_005514.8

p.G199R

c.595G>A

1 paper

NM_005514.8

p.W191C

c.573G>T