Varaico: Literature-Extracted Genetic Variants

Gene:PROX1
Variant:p.R12delFs

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.R12delFs
c.34delC
Surrounding Variants
1 paper
NM_001270616.2
p.I21M
c.63T>G
1 paper
NM_001270616.2
p.R25K
c.74G>A
1 paper
NM_001270616.2
p.T29R
c.86C>G
1 paper
NM_001270616.2
p.A30S
c.88G>T
1 paper
NM_001270616.2
p.A32E
c.95C>A
1 paper
NM_001270616.2
p.A39T
c.115G>A
1 paper
NM_001270616.2
p.S43G
c.127A>G
1 paper
NM_001270616.2
p.Q52E
c.154C>G
1 paper
NM_001270616.2
p.Q52_D53del1
c.155_157delAGG
1 paper
NM_001270616.2
p.V58V
c.174G>C
1 paper
NM_001270616.2
p.S79A
c.235T>G
1 paper
NM_001270616.2
p.S79S
c.237G>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."