Varaico: Literature-Extracted Genetic Variants

Gene:VEGFD
Variant:p.Q253K

VEGFD

76 papers

RefSeq Summary

The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endotheli...

Pfam Domains

PDGFaa 111–191UCSCPDGF/VEGF domain
CXCXCaa 261–273UCSCCXCXC repeat

Gene Aliases

HGNC Name

vascular endothelial growth factor D

HGNC Previous Symbol

FIGF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004469.5
p.Q253K
c.757C>A
Surrounding Variants
1 paper
NM_004469.5
p.M262T
c.785T>C
1 paper
NM_004469.5
p.L281_I282insGA
c.841_845ins6
1 paper
NM_004469.5
p.K286Q
c.856A>C
1 paper
NM_004469.5
p.C288S
c.862T>A
1 paper
NM_004469.5
p.C288S
c.863G>C
1 paper
NM_004469.5
p.C290delFs
c.868delA
1 paper
NM_004469.5
p.E292G
c.875A>G
1 paper
NM_004469.5
p.C312R
c.934T>C
11 papers
NM_004469.5
p.C312C
c.936C>T
1 paper
NM_004469.5
p.A333S
c.997G>T
1 paper
NM_004469.5
p.H349N
c.1045C>A
1 paper
NM_004469.5
p.E240K
c.718G>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."