Varaico: Literature-Extracted Genetic Variants

HDLBP

159 papers

RefSeq Summary

The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin...

Pfam Domains

KH_Vigilinaa 85–151UCSCVigilin KH domain

KH_1aa 152–214UCSCKH domain

KH_1aa 224–286UCSCKH domain

KH_1aa 297–359UCSCKH domain

KH_1aa 366–426UCSCKH domain

KH_1aa 437–499UCSCKH domain

Gene Aliases

HGNC Name

high density lipoprotein binding protein

HGNC Previous Symbol

VGL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005336.6

p.N30K

c.90T>A

Surrounding Variants

1 paper

NM_005336.6

p.S31T

c.91T>A

1 paper

NM_005336.6

p.S31L

c.92C>T

1 paper

NM_005336.6

p.L29Fs

c.86delinsCCFs

1 paper

NM_005336.6

p.E33V

c.98A>T

1 paper

NM_005336.6

p.T28A

c.82A>G

1 paper

NM_005336.6

p.A27V

c.80C>T

2 papers

NM_005336.6

p.D36N

c.106G>A

1 paper

NM_005336.6

p.P37H

c.110C>A

1 paper

NM_005336.6

p.Y40delFs

c.118delA

1 paper

NM_005336.6

p.Y40fs

c.118_119fs

2 papers

NM_005336.6

p.K41T

c.122A>C

1 paper

NM_005336.6

p.A43T

c.127G>A