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.P279L

c.836C>T

Surrounding Variants

1 paper

NM_000583.4

p.P279delins

c.837delinsCCTG

1 paper

NM_000583.4

p.P279S

c.835C>T

6 papers

NM_000583.4

p.E280K

c.838G>A

1 paper

NM_000583.4

p.E280V

c.839A>T

1 paper

NM_000583.4

p.H281Y

c.841C>T

1 paper

NM_000583.4

p.E280_H281ins0

c.840_842dupACA

2 papers

NM_000583.4

p.T282A

c.844A>G

1 paper

NM_000583.4

p.H281delFs

c.843delG

1 paper

NM_000583.4

p.C286S

c.856T>A

1 paper

NM_000583.4

p.K284_L285delFs

c.852_855del4

1 paper

NM_000583.4

p.C286S

c.857G>C

1 paper

NM_000583.4

p.C286Y

c.857G>A