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.S37F

c.110C>T

Surrounding Variants

1 paper

NM_005514.8

p.S37_R38insCC

c.109_113ins6

1 paper

NM_005514.8

p.R38W

c.112C>T

3 papers

NM_005514.8

p.R38Q

c.113G>A

1 paper

NM_005514.8

p.V36L

c.106G>T

1 paper

NM_005514.8

p.R38fs

c.112_113fs

5 papers

NM_005514.8

p.V36M

c.106G>A

1 paper

NM_005514.8

p.S35_V36delins

c.103_106delinsGCCA

2 papers

NM_005514.8

p.S35F

c.104C>T

5 papers

NM_005514.8

p.S35A

c.103T>G

1 paper

NM_005514.8

p.G40C

c.118G>T

1 paper

NM_005514.8

p.G40fs

c.118_119fs

1 paper

NM_005514.8

p.G40V

c.119G>T