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.S173insFs

c.517_518insA

Surrounding Variants

1 paper

NM_000583.4

p.L172L

c.516G>T

2 papers

NM_000583.4

p.S173*

c.518C>G

1 paper

NM_000583.4

p.S173*

c.518C>A

1 paper

NM_000583.4

p.L175insFs

c.523_524insG

1 paper

NM_000583.4

p.L175V

c.523T>G

7 papers

NM_000583.4

p.P171S

c.511C>T

1 paper

NM_000583.4

p.P171insFs

c.511_512ins4

3 papers

NM_000583.4

p.A170V

c.509C>T

1 paper

NM_000583.4

p.A170insFs

c.509_510insGT

1 paper

NM_000583.4

p.L175_V176insFs

c.525_526insC

1 paper

NM_000583.4

p.V176insFs

c.526dupG

1 paper

NM_000583.4

p.Q169K

c.505C>A