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.H34_L35ins1

c.102_103insGAG

Surrounding Variants

5 papers

NM_000583.4

p.H34H

c.102T>C

1 paper

NM_000583.4

p.H34Q

c.102T>A

2 papers

NM_000583.4

p.L35L

c.103C>T

1 paper

NM_000583.4

p.L35V

c.103C>G

1 paper

NM_000583.4

p.H34L

c.101A>T

1 paper

NM_000583.4

p.H34R

c.101A>G

1 paper

NM_000583.4

p.H34P

c.101A>C

1 paper

NM_000583.4

p.H34Y

c.100C>T

1 paper

NM_000583.4

p.H34D

c.100C>G

1 paper

NM_000583.4

p.H34N

c.100C>A

1 paper

NM_000583.4

p.S33S

c.99C>A

2 papers

NM_000583.4

p.S33F

c.98C>T