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.L406delFs

c.1216_1217delAG

Surrounding Variants

1 paper

NM_000583.4

p.C407R

c.1219T>C

1 paper

NM_000583.4

p.C407_A408insFs

c.1221_1222insC

1 paper

NM_000583.4

p.E405D

c.1215A>T

1 paper

NM_000583.4

p.E405D

c.1215A>C

1 paper

NM_000583.4

p.A408T

c.1222G>A

1 paper

NM_000583.4

p.E405Q

c.1213G>C

2 papers

NM_000583.4

p.A408V

c.1223C>T

17 papers

NM_000583.4

p.D409H

c.1225G>C

1 paper

NM_000583.4

p.Q404*

c.1210C>T

5 papers

NM_000583.4

p.D409V

c.1226A>T

4 papers

NM_000583.4

p.D409G

c.1226A>G

1 paper

NM_000583.4

p.S411S

c.1233A>T