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.L183R

c.548T>G

Surrounding Variants

2 papers

NM_000583.4

p.L183P

c.548T>C

1 paper

NM_000583.4

p.S184insFs

c.550_551insC

1 paper

NM_000583.4

p.Y182Y

c.546T>C

1 paper

NM_000583.4

p.Y178_S181delins

c.533_542delinsC

1 paper

NM_000583.4

p.V186E

c.557T>A

1 paper

NM_000583.4

p.K180M

c.539A>T

1 paper

NM_000583.4

p.V186delFs

c.557delA

1 paper

NM_000583.4

p.M185_G187Fs

c.554_559delinsTGTGFs

1 paper

NM_000583.4

p.G187R

c.559G>A

2 papers

NM_000583.4

p.S188F

c.563C>T

1 paper

NM_000583.4

p.S177N

c.530G>A

1 paper

NM_000583.4

p.V176insFs

c.526dupG