Varaico: Literature-Extracted Genetic Variants

Gene:PROX1
Variant:p.R209L

PROX1

115 papers

RefSeq Summary

The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure t...

Pfam Domains

HPDaa 579–732UCSCHomeo-prospero domain

Gene Aliases

HGNC Name

prospero homeobox 1

HGNC Previous Name

prospero-related homeobox 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001270616.2
p.R209L
c.626G>T
Surrounding Variants
1 paper
NM_001270616.2
p.Q222*
c.664C>T
1 paper
NM_001270616.2
p.Q196H
c.588G>C
1 paper
NM_001270616.2
p.Q196H
c.588G>T
1 paper
NM_001270616.2
p.P195L
c.584C>T
1 paper
NM_001270616.2
p.E190Q
c.568G>C
1 paper
NM_001270616.2
p.K232R
c.695A>G
1 paper
NM_001270616.2
p.R236C
c.706C>T
1 paper
NM_001270616.2
p.E244*
c.730G>T
1 paper
NM_001270616.2
p.I172I
c.516A>C
1 paper
NM_001270616.2
p.N171insFs
c.512_513insGC
1 paper
NM_001270616.2
p.E170Q
c.508G>C
1 paper
NM_001270616.2
p.Q249R
c.746A>G
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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."