Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.A12G

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.A12G
c.35C>G
Surrounding Variants
2 papers
NM_000583.4
p.A12P
c.34G>C
1 paper
NM_000583.4
p.F13_G14insA
c.37_41ins3
1 paper
NM_000583.4
p.F13L
c.37T>C
1 paper
NM_000583.4
p.F13I
c.37T>A
1 paper
NM_000583.4
p.V11insFs
c.32_33ins4
4 papers
NM_000583.4
p.V11L
c.31G>C
1 paper
NM_000583.4
p.V11M
c.31G>A
1 paper
NM_000583.4
p.A10A
c.30T>C
2 papers
NM_000583.4
p.A10A
c.30T>A
1 paper
NM_000583.4
p.G14*
c.40G>T
1 paper
NM_000583.4
p.G14R
c.40G>A
1 paper
NM_000583.4
p.F13delFs
c.38delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."