Varaico: Literature-Extracted Genetic Variants

GC

1,611 papers

RefSeq Summary

The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds...

Pfam Domains

Serum_albuminaa 27–199UCSCSerum albumin family

Serum_albuminaa 218–385UCSCSerum albumin family

VitD-bind_IIIaa 405–469UCSCVitamin D binding protein, domain III

Gene Aliases

HGNC Name

GC vitamin D binding protein

HGNC Alias Symbols

VDBP; hDBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000583.4

p.V197L

c.589G>C

Surrounding Variants

1 paper

NM_000583.4

p.V197G

c.590T>G

1 paper

NM_000583.4

p.V197V

c.591A>T

1 paper

NM_000583.4

p.P195ins2

c.584_585ins6

1 paper

NM_000583.4

p.C198_F199insFs

c.594_595insC

1 paper

NM_000583.4

p.F199F

c.597T>C

1 paper

NM_000583.4

p.L200insFs

c.599_600ins14

1 paper

NM_000583.4

p.A193A

c.579A>T

1 paper

NM_000583.4

p.A193G

c.578C>G

2 papers

NM_000583.4

p.S192fs

c.574_575fs

1 paper

NM_000583.4

p.S192Y

c.575C>A

2 papers

NM_000583.4

p.K201K

c.603A>G

1 paper

NM_000583.4

p.E202E

c.606G>A