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

2 papers

NM_000583.4

p.L426P

c.1277T>C

Surrounding Variants

1 paper

NM_000583.4

p.R425*

c.1273C>T

1 paper

NM_000583.4

p.E424_K427del4

c.1270_1280del12

1 paper

NM_000583.4

p.A423V

c.1268C>T

1 paper

NM_000583.4

p.K429I

c.1286A>T

1 paper

NM_000583.4

p.K429N

c.1287A>T

1 paper

NM_000583.4

p.K429N

c.1287A>C

2 papers

NM_000583.4

p.L422R

c.1265T>G

2 papers

NM_000583.4

p.L422P

c.1265T>C

1 paper

NM_000583.4

p.K421K

c.1263A>G

1 paper

NM_000583.4

p.K421Splc

c.1263-1G>A

1 paper

NM_000583.4

p.K421Splc

c.1263-2A>T

1 paper

NM_000583.4

p.K421Splc

c.1263-2A>G