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.D401insFs

c.1201_1202insC

Surrounding Variants

1 paper

NM_000583.4

p.D401H

c.1201G>C

1 paper

NM_000583.4

p.Q404*

c.1210C>T

1 paper

NM_000583.4

p.S397_S398insFs

c.1191_1192insG

1 paper

NM_000583.4

p.S397P

c.1189T>C

1 paper

NM_000583.4

p.E405Q

c.1213G>C

6 papers

NM_000583.4

p.L396L

c.1188A>C

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.L396V

c.1186C>G

1 paper

NM_000583.4

p.L396I

c.1186C>A

1 paper

NM_000583.4

p.K393_E395delFs

c.1178_1185del8

1 paper

NM_000583.4

p.L406delFs

c.1216_1217delAG