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.W171C

c.513G>T

Surrounding Variants

1 paper

NM_005514.8

p.W171C

c.513G>C

1 paper

NM_005514.8

p.W171*

c.513G>A

3 papers

NM_005514.8

p.W171L

c.512G>T

1 paper

NM_005514.8

p.E172*

c.514G>T

1 paper

NM_005514.8

p.W171*

c.512G>A

1 paper

NM_005514.8

p.W171R

c.511T>A

2 papers

NM_005514.8

p.E172D

c.516G>T

4 papers

NM_005514.8

p.R169L

c.506G>T

1 paper

NM_005514.8

p.R169S

c.505C>A

1 paper

NM_005514.8

p.Q168fs

c.502_503fs

1 paper

NM_005514.8

p.A174fs

c.520_521fs

1 paper

NM_005514.8

p.R175P

c.524G>C