Varaico: Literature-Extracted Genetic Variants

Gene:PROX1
Variant:p.E298E

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.E298E
c.894G>A
Surrounding Variants
1 paper
NM_001270616.2
p.D303N
c.907G>A
1 paper
NM_001270616.2
p.P304P
c.912A>C
1 paper
NM_001270616.2
p.D290delFs
c.868delG
1 paper
NM_001270616.2
p.R310Q
c.929G>A
1 paper
NM_001270616.2
p.A313_P325del0
c.939_974del36
1 paper
NM_001270616.2
p.R280C
c.838C>T
1 paper
NM_001270616.2
p.E319fs
c.955_956fs
1 paper
NM_001270616.2
p.D277E
c.831C>A
1 paper
NM_001270616.2
p.D277E
c.831C>G
1 paper
NM_001270616.2
p.N273D
c.817A>G
1 paper
NM_001270616.2
p.K326R
c.977A>G
1 paper
NM_001270616.2
p.R327*
c.979C>T
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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."