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

2 papers

NM_005514.8

p.I90M

c.270C>G

Surrounding Variants

1 paper

NM_005514.8

p.I90delins

c.269_270delinsAG

1 paper

NM_005514.8

p.I90T

c.269T>C

2 papers

NM_005514.8

p.I90N

c.269T>A

3 papers

NM_005514.8

p.Y91F

c.272A>T

6 papers

NM_005514.8

p.Y91C

c.272A>G

5 papers

NM_005514.8

p.Y91S

c.272A>C

1 paper

NM_005514.8

p.Y91*

c.273C>G

1 paper

NM_005514.8

p.Y91fs

c.271_272fs

1 paper

NM_005514.8

p.Y91*

c.273C>A

2 papers

NM_005514.8

p.Q89R

c.266A>G

3 papers

NM_005514.8

p.Q89E

c.265C>G

1 paper

NM_005514.8

p.K92R

c.275A>G