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.Q179_R180insFs

c.537_538insGA

Surrounding Variants

2 papers

NM_005514.8

p.R180fs

c.538_539fs

6 papers

NM_005514.8

p.R180W

c.538C>T

1 paper

NM_005514.8

p.R180G

c.538C>G

11 papers

NM_005514.8

p.R180L

c.539G>T

2 papers

NM_005514.8

p.R180fs

c.538_539fs

1 paper

NM_005514.8

p.R180R

c.540G>C

1 paper

NM_005514.8

p.R180delins

c.538_540delinsGAC

1 paper

NM_005514.8

p.Q179R

c.536A>G

1 paper

NM_005514.8

p.R181G

c.541A>G

2 papers

NM_005514.8

p.R180delFs

c.539_540delCC

1 paper

NM_005514.8

p.R181I

c.542G>T

1 paper

NM_005514.8

p.E178fs

c.532_533fs