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

41 papers

NM_005514.8

p.R103Q

c.308G>A

Surrounding Variants

1 paper

NM_005514.8

p.R103W

c.307C>T

1 paper

NM_005514.8

p.R103G

c.307C>G

1 paper

NM_005514.8

p.N104fs

c.310_311fs

1 paper

NM_005514.8

p.L102P

c.305T>C

1 paper

NM_005514.8

p.N104I

c.311A>T

1 paper

NM_005514.8

p.N104S

c.311A>G

1 paper

NM_005514.8

p.N104T

c.311A>C

1 paper

NM_005514.8

p.R103_N104delins

c.309_311delinsCAC

2 papers

NM_005514.8

p.N104K

c.312C>G

1 paper

NM_005514.8

p.N104_L105insFs

c.312_313insAA

2 papers

NM_005514.8

p.N104K

c.312C>A

1 paper

NM_005514.8

p.N104delFs

c.311delT