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.V127_G128ins1

c.381_382insATC

Surrounding Variants

1 paper

NM_005514.8

p.V127A

c.380T>C

5 papers

NM_005514.8

p.V127L

c.379G>T

8 papers

NM_005514.8

p.V127L

c.379G>C

4 papers

NM_005514.8

p.V127M

c.379G>A

1 paper

NM_005514.8

p.G128G

c.384G>T

1 paper

NM_005514.8

p.D126D

c.378C>T

3 papers

NM_005514.8

p.D126N

c.376G>A

1 paper

NM_005514.8

p.P129Q

c.386C>A

2 papers

NM_005514.8

p.P129P

c.387G>C

1 paper

NM_005514.8

p.C125G

c.373T>G

3 papers

NM_005514.8

p.D130D

c.390C>T

1 paper

NM_005514.8

p.G124delFs

c.371delC