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.S101G

c.301A>G

Surrounding Variants

1 paper

NM_005514.8

p.S101R

c.301A>C

1 paper

NM_005514.8

p.S101I

c.302G>T

1 paper

NM_005514.8

p.E100D

c.300G>C

6 papers

NM_005514.8

p.S101N

c.302G>A

1 paper

NM_005514.8

p.E100E

c.300G>A

1 paper

NM_005514.8

p.S101R

c.303C>G

1 paper

NM_005514.8

p.S101R

c.303C>A

5 papers

NM_005514.8

p.E100V

c.299A>T

1 paper

NM_005514.8

p.L102P

c.305T>C

2 papers

NM_005514.8

p.R99L

c.296G>T

2 papers

NM_005514.8

p.R99Q

c.296G>A

1 paper

NM_005514.8

p.R103W

c.307C>T