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.T41R

c.122C>G

Surrounding Variants

1 paper

NM_000583.4

p.T41A

c.121A>G

1 paper

NM_000583.4

p.S42A

c.124T>G

1 paper

NM_000583.4

p.L43L

c.127C>T

1 paper

NM_000583.4

p.L43M

c.127C>A

1 paper

NM_000583.4

p.E38del1

c.112_114delCTC

1 paper

NM_000583.4

p.D39V

c.116A>T

2 papers

NM_000583.4

p.D39G

c.116A>G

1 paper

NM_000583.4

p.L43Splc

c.128+2T>C

1 paper

NM_000583.4

p.L43Splc

c.128+2T>A

1 paper

NM_000583.4

p.E38delFs

c.112delC

1 paper

NM_000583.4

p.E38Q

c.112G>C

1 paper

NM_000583.4

p.K37_E38ins5

c.111_112ins15