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.E190D

c.570G>T

Surrounding Variants

3 papers

NM_005514.8

p.E190D

c.570G>C

3 papers

NM_005514.8

p.W191G

c.571T>G

2 papers

NM_005514.8

p.E190G

c.569A>G

1 paper

NM_005514.8

p.E187_E190delFs

c.559_568del10

1 paper

NM_005514.8

p.W191L

c.572G>T

8 papers

NM_005514.8

p.W191S

c.572G>C

1 paper

NM_005514.8

p.E190Q

c.568G>C

2 papers

NM_005514.8

p.W191*

c.572G>A

1 paper

NM_005514.8

p.W191C

c.573G>T

1 paper

NM_005514.8

p.W191C

c.573G>C

2 papers

NM_005514.8

p.W191*

c.573G>A

1 paper

NM_005514.8

p.C188F

c.563G>T