Varaico: Literature-Extracted Genetic Variants

Gene:PROX1
Variant:p.L590H

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
2 papers
NM_001270616.2
p.L590H
c.1769T>A
Surrounding Variants
1 paper
NM_001270616.2
p.Q634*
c.1900C>T
1 paper
NM_001270616.2
p.A664S
c.1990G>T
1 paper
NM_001270616.2
p.M667I
c.2001G>A
1 paper
NM_001270616.2
p.M667I
c.2001G>C
1 paper
NM_001270616.2
p.M667I
c.2001G>T
1 paper
NM_001270616.2
p.D564Y
c.1690G>T
1 paper
NM_001270616.2
p.L562F
c.1684C>T
1 paper
NM_001270616.2
p.G560S
c.1678G>A
1 paper
NM_001270616.2
p.E558K
c.1672G>A
1 paper
NM_001270616.2
p.K556R
c.1667A>G
2 papers
NM_001270616.2
p.S553L
c.1658C>T
1 paper
NM_001270616.2
p.P543S
c.1627C>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."