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.P316S

c.946C>T

Surrounding Variants

2 papers

NM_000583.4

p.A317T

c.949G>A

1 paper

NM_000583.4

p.A318V

c.953C>T

1 paper

NM_000583.4

p.T312_Y313Fs

c.935_937delinsAFs

1 paper

NM_000583.4

p.A318delFs

c.953delG

1 paper

NM_000583.4

p.T312A

c.934A>G

1 paper

NM_000583.4

p.T312P

c.934A>C

1 paper

NM_000583.4

p.C311F

c.932G>T

1 paper

NM_000583.4

p.P316_L320del0

c.948_959del12

1 paper

NM_000583.4

p.P321P

c.963C>T

1 paper

NM_000583.4

p.P321insFs

c.961_962insC

1 paper

NM_000583.4

p.E322D

c.966G>T

1 paper

NM_000583.4

p.E322_L323insFs

c.966_967insC