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.Y147N

c.439T>A

Surrounding Variants

1 paper

NM_005514.8

p.Y147D

c.439T>G

1 paper

NM_005514.8

p.G144_D146delFs

c.431_438del8

1 paper

NM_005514.8

p.Y147fs

c.439_440fs

1 paper

NM_005514.8

p.D146insFs

c.438dupT

1 paper

NM_005514.8

p.I148L

c.442A>C

1 paper

NM_005514.8

p.K145_I148del0

c.434_442del9

1 paper

NM_005514.8

p.K145_I148del4

c.433_443del12

1 paper

NM_005514.8

p.G144S

c.430G>A

1 paper

NM_005514.8

p.D143Y

c.427G>T

1 paper

NM_005514.8

p.D143H

c.427G>C

1 paper

NM_005514.8

p.N151Y

c.451A>T

2 papers

NM_005514.8

p.N151D

c.451A>G