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

1–12 of 853 variants

41 papers

NM_005514.8

p.R103Q

c.308G>A

27 papers

NM_005514.8

p.G80R

c.238G>A

16 papers

NM_005514.8

p.C349S

c.1046G>C

15 papers

NM_005514.8

p.C349S

c.1045T>A

12 papers

NM_005514.8

p.A329T

c.985G>A

11 papers

NM_005514.8

p.T55A

c.163A>G

11 papers

NM_005514.8

p.R155S

c.463C>A

11 papers

NM_005514.8

p.A163G

c.488C>G

11 papers

NM_005514.8

p.R180L

c.539G>T

10 papers

NM_005514.8

p.S121R

c.361A>C

10 papers

NM_005514.8

p.S121R

c.363C>G

10 papers

NM_005514.8

p.S121R

c.363C>A