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

5 papers

NM_005514.8

p.S48T

c.142T>A

Surrounding Variants

7 papers

NM_005514.8

p.S48A

c.142T>G

1 paper

NM_005514.8

p.I47_S48delins

c.141_142delinsTG

1 paper

NM_005514.8

p.I47I

c.141C>T

1 paper

NM_005514.8

p.S48*

c.143C>G

1 paper

NM_005514.8

p.S48*

c.143C>A

1 paper

NM_005514.8

p.S48delins

c.142_144delinsACC

1 paper

NM_005514.8

p.V49_G50insG

c.145_149ins3

1 paper

NM_005514.8

p.V49L

c.145G>C

3 papers

NM_005514.8

p.I47V

c.139A>G

2 papers

NM_005514.8

p.F46S

c.137T>C

2 papers

NM_005514.8

p.G50D

c.149G>A

3 papers

NM_005514.8

p.R45H

c.134G>A