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

33 papers

NM_000583.4

p.T436K

c.1307C>A

NM_001204307.1

p.T455K

c.1364C>A

Surrounding Variants

1 paper

NM_000583.4

p.T436M

c.1307C>T

1 paper

NM_000583.4

p.E437K

c.1309G>A

1 paper

NM_000583.4

p.P435P

c.1305C>A

2 papers

NM_000583.4

p.P435S

c.1303C>T

1 paper

NM_000583.4

p.A433T

c.1297G>A

42 papers

NM_000583.4

p.D432E

c.1296T>G

NM_001204307.1

p.D451E

c.1353T>G

34 papers

NM_000583.4

p.D432E

c.1296T>A

NM_001204307.1

p.D451E

c.1353T>A

1 paper

NM_000583.4

p.K440E

c.1318A>G

1 paper

NM_000583.4

p.D432Y

c.1294G>T

1 paper

NM_000583.4

p.K429N

c.1287A>T

1 paper

NM_000583.4

p.K429N

c.1287A>C

1 paper

NM_000583.4

p.K429I

c.1286A>T