Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
7 papers
NM_000583.4
p.M1V
c.1A>G
2 papers
NM_000583.4
p.M1L
c.1A>C
1 paper
NM_000583.4
p.M1insFs
c.1dupA
1 paper
NM_000583.4
p.M1R
c.2T>G
3 papers
NM_000583.4
p.M1T
c.2T>C
1 paper
NM_000583.4
p.M1K
c.2T>A
6 papers
NM_000583.4
p.M1I
c.3G>T
1 paper
NM_000583.4
p.M1Fs
c.3delinsATFs
1 paper
NM_000583.4
p.M1insFs
c.2dupT
1 paper
NM_000583.4
p.M1_K2insFs
c.3_4insA
5 papers
NM_000583.4
p.M1I
c.3G>C
5 papers
NM_000583.4
p.M1I
c.3G>A
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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."