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.Y83F

c.248A>T

Surrounding Variants

2 papers

NM_005514.8

p.Y83C

c.248A>G

1 paper

NM_005514.8

p.E82ins1

c.245_246insAGT

1 paper

NM_005514.8

p.Y83N

c.247T>A

1 paper

NM_005514.8

p.W84R

c.250T>C

1 paper

NM_005514.8

p.W84R

c.250T>A

1 paper

NM_005514.8

p.E82fs

c.244_245fs

1 paper

NM_005514.8

p.E82E

c.246G>A

1 paper

NM_005514.8

p.W84*

c.251G>A

1 paper

NM_005514.8

p.W75_E82del0

c.224_244del21

1 paper

NM_005514.8

p.W84C

c.252G>T

1 paper

NM_005514.8

p.W84C

c.252G>C

1 paper

NM_005514.8

p.W84*

c.252G>A