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

2 papers

NM_000583.4

p.K2N

c.6G>C

Surrounding Variants

1 paper

NM_000583.4

p.K2M

c.5A>T

1 paper

NM_000583.4

p.R3G

c.7A>G

1 paper

NM_000583.4

p.K2R

c.5A>G

1 paper

NM_000583.4

p.K2delFs

c.6delC

1 paper

NM_000583.4

p.K2*

c.4A>T

2 papers

NM_000583.4

p.K2Q

c.4A>C

1 paper

NM_000583.4

p.K2insFs

c.4_5insG

1 paper

NM_000583.4

p.K2insFs

c.4_5insGG

6 papers

NM_000583.4

p.M1I

c.3G>T

1 paper

NM_000583.4

p.R3S

c.9G>T

1 paper

NM_000583.4

p.M1Fs

c.3delinsATFs

1 paper

NM_000583.4

p.M1insFs

c.2dupT