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.D22G

c.65A>G

Surrounding Variants

1 paper

NM_000583.4

p.D22insFs

c.64dupG

1 paper

NM_000583.4

p.D22_Y23ins2

c.66_67ins6

2 papers

NM_000583.4

p.D22E

c.66T>G

1 paper

NM_000583.4

p.R21_D22insFs

c.63_64ins13

1 paper

NM_000583.4

p.R21delins

c.63delinsCGTGCCCCAGCCC

1 paper

NM_000583.4

p.R21R

c.63G>A

2 papers

NM_000583.4

p.R21L

c.62G>T

1 paper

NM_000583.4

p.R21P

c.62G>C

2 papers

NM_000583.4

p.R21Q

c.62G>A

1 paper

NM_000583.4

p.Y23_E24insFs

c.69_70insG

1 paper

NM_000583.4

p.Y23Y

c.69T>C

1 paper

NM_000583.4

p.R21W

c.61C>T