Varaico: Literature-Extracted Genetic Variants

Gene:PROX1
Variant:p.K353R

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.K353R
c.1058A>G
Surrounding Variants
1 paper
NM_001270616.2
p.H347delFs
c.1039_1040delCA
2 papers
NM_001270616.2
p.Q362H
c.1086A>C
2 papers
NM_001270616.2
p.Q362H
c.1086A>T
1 paper
NM_001270616.2
p.S340C
c.1019C>G
1 paper
NM_001270616.2
p.V370F
c.1108G>T
1 paper
NM_001270616.2
p.E333Q
c.997G>C
1 paper
NM_001270616.2
p.K374*
c.1120A>T
1 paper
NM_001270616.2
p.R327*
c.979C>T
1 paper
NM_001270616.2
p.K326R
c.977A>G
1 paper
NM_001270616.2
p.L386I
c.1156C>A
1 paper
NM_001270616.2
p.Q387*
c.1159C>T
1 paper
NM_001270616.2
p.E319fs
c.955_956fs
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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."