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.K30M

c.89A>T

Surrounding Variants

1 paper

NM_000583.4

p.K30N

c.90G>T

1 paper

NM_000583.4

p.E31V

c.92A>T

1 paper

NM_000583.4

p.C29insFs

c.85_86insG

1 paper

NM_000583.4

p.C29R

c.85T>C

1 paper

NM_000583.4

p.V28delFs

c.84delG

1 paper

NM_000583.4

p.E31delFs

c.92delT

1 paper

NM_000583.4

p.V28insFs

c.82_83insG

1 paper

NM_000583.4

p.V28I

c.82G>A

1 paper

NM_000583.4

p.S33A

c.97T>G

2 papers

NM_000583.4

p.S33F

c.98C>T

1 paper

NM_000583.4

p.K27insFs

c.80_81insT

1 paper

NM_000583.4

p.S33S

c.99C>A