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

2 papers

NM_005514.8

p.D138H

c.412G>C

Surrounding Variants

7 papers

NM_005514.8

p.D138N

c.412G>A

1 paper

NM_005514.8

p.H137_D138delins

c.409_412delinsTACC

1 paper

NM_005514.8

p.H137fs

c.409_410fs

1 paper

NM_005514.8

p.H137P

c.410A>C

8 papers

NM_005514.8

p.H137Y

c.409C>T

3 papers

NM_005514.8

p.Q139*

c.415C>T

1 paper

NM_005514.8

p.G136insFs

c.408dupG

1 paper

NM_005514.8

p.Q139R

c.416A>G

1 paper

NM_005514.8

p.Q139_Y140insFs

c.417_418ins4

4 papers

NM_005514.8

p.Y140D

c.418T>G

1 paper

NM_005514.8

p.G136R

c.406G>A

1 paper

NM_005514.8

p.R135fs

c.403_404fs