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

1–12 of 718 variants

41 papers

NM_000583.4

p.D432E

c.1296T>G

33 papers

NM_000583.4

p.D432E

c.1296T>A

32 papers

NM_000583.4

p.T436K

c.1307C>A

17 papers

NM_000583.4

p.D409H

c.1225G>C

7 papers

NM_000583.4

p.M1V

c.1A>G

7 papers

NM_000583.4

p.P171S

c.511C>T

6 papers

NM_000583.4

p.M1I

c.3G>T

6 papers

NM_000583.4

p.E280K

c.838G>A

6 papers

NM_000583.4

p.L396L

c.1188A>C

5 papers

NM_000583.4

p.M1I

c.3G>C

5 papers

NM_000583.4

p.M1I

c.3G>A

5 papers

NM_000583.4

p.H34H

c.102T>C