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

3 papers

NM_005514.8

p.E187Q

c.559G>C

Surrounding Variants

1 paper

NM_005514.8

p.E187*

c.559G>T

6 papers

NM_005514.8

p.E187K

c.559G>A

1 paper

NM_005514.8

p.E187fs

c.559_560fs

1 paper

NM_005514.8

p.G186insFs

c.556dupG

5 papers

NM_005514.8

p.E187V

c.560A>T

7 papers

NM_005514.8

p.E187A

c.560A>C

1 paper

NM_005514.8

p.E187delins

c.559_560delinsCT

2 papers

NM_005514.8

p.E187delins

c.559_560delinsAC

1 paper

NM_005514.8

p.E187D

c.561G>T

1 paper

NM_005514.8

p.C188F

c.563G>T

1 paper

NM_005514.8

p.E185E

c.555G>A

1 paper

NM_005514.8

p.E185*

c.553G>T