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

1 paper

NM_005514.8

p.P71L

c.212C>T

Surrounding Variants

2 papers

NM_005514.8

p.P71R

c.212C>G

1 paper

NM_005514.8

p.P71Q

c.212C>A

3 papers

NM_005514.8

p.P71P

c.213G>C

1 paper

NM_005514.8

p.R68_P71delins

c.204_213delinsGATGGCGCCC

2 papers

NM_005514.8

p.E70E

c.210G>A

1 paper

NM_005514.8

p.R72W

c.214C>T

4 papers

NM_005514.8

p.E70A

c.209A>C

1 paper

NM_005514.8

p.E70insFs

c.208_209insA

1 paper

NM_005514.8

p.E70K

c.208G>A

1 paper

NM_005514.8

p.E69delFs

c.206_207delCT

1 paper

NM_005514.8

p.E70fs

c.208_209fs

1 paper

NM_005514.8

p.E69Fs

c.207delinsTGFs