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.V334M

c.1000G>A

Surrounding Variants

1 paper

NM_000583.4

p.V334A

c.1001T>C

1 paper

NM_000583.4

p.V334E

c.1001T>A

1 paper

NM_000583.4

p.V334V

c.1002G>A

1 paper

NM_000583.4

p.C335S

c.1004G>C

1 paper

NM_000583.4

p.K332R

c.995A>G

1 paper

NM_000583.4

p.N331K

c.993C>A

1 paper

NM_000583.4

p.D336G

c.1007A>G

1 paper

NM_000583.4

p.D336insFs

c.1007_1008insA

1 paper

NM_000583.4

p.N331D

c.991A>G

1 paper

NM_000583.4

p.P337delFs

c.1010delG

1 paper

NM_000583.4

p.P329L

c.986C>T

1 paper

NM_000583.4

p.P329S

c.985C>T