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.A141T

c.421G>A

Surrounding Variants

2 papers

NM_005514.8

p.A141V

c.422C>T

5 papers

NM_005514.8

p.Y140*

c.420C>G

7 papers

NM_005514.8

p.Y140*

c.420C>A

1 paper

NM_005514.8

p.Y140delins

c.419_420delinsTA

7 papers

NM_005514.8

p.Y140F

c.419A>T

1 paper

NM_005514.8

p.Y140C

c.419A>G

7 papers

NM_005514.8

p.Y140S

c.419A>C

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.Y142H

c.424T>C

3 papers

NM_005514.8

p.Y142*

c.426C>G

2 papers

NM_005514.8

p.Y142*

c.426C>A