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.D447_F448ins0

c.1339_1344dup6

Surrounding Variants

1 paper

NM_000583.4

p.A449A

c.1347C>T

1 paper

NM_000583.4

p.S446insFs

c.1337dupC

1 paper

NM_000583.4

p.S446ins2

c.1337_1338ins6

4 papers

NM_000583.4

p.H445R

c.1334A>G

NM_001204307.1

p.H464R

c.1391A>G

2 papers

NM_000583.4

p.H445Y

c.1333C>T

1 paper

NM_000583.4

p.K440E

c.1318A>G

1 paper

NM_000583.4

p.P459_L460insFs

c.1377_1378insA

1 paper

NM_000583.4

p.L460insFs

c.1378_1379insA

1 paper

NM_000583.4

p.E437K

c.1309G>A

1 paper

NM_000583.4

p.C462Y

c.1385G>A

1 paper

NM_000583.4

p.T436M

c.1307C>T

33 papers

NM_000583.4

p.T436K

c.1307C>A

NM_001204307.1

p.T455K

c.1364C>A