Varaico: Literature-Extracted Genetic Variants

Gene:PROX1

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
1–12 of 105 variants
2 papers
NM_001270616.2
p.G106D
c.317G>A
2 papers
NM_001270616.2
p.M154V
c.460A>G
2 papers
NM_001270616.2
p.D265N
c.793G>A
2 papers
NM_001270616.2
p.S266L
c.797C>T
2 papers
NM_001270616.2
p.Q362H
c.1086A>C
2 papers
NM_001270616.2
p.Q362H
c.1086A>T
2 papers
NM_001270616.2
p.S553L
c.1658C>T
2 papers
NM_001270616.2
p.L590H
c.1769T>A
1 paper
NM_001270616.2
p.R12delFs
c.34delC
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
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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."