Varaico: Literature-Extracted Genetic Variants

Gene:PROX1
Variant:p.H461Q

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.H461Q
c.1383C>G
Surrounding Variants
1 paper
NM_001270616.2
p.H461Q
c.1383C>A
1 paper
NM_001270616.2
p.G459D
c.1376G>A
1 paper
NM_001270616.2
p.G458C
c.1372G>T
1 paper
NM_001270616.2
p.A457T
c.1369G>A
1 paper
NM_001270616.2
p.P468S
c.1402C>T
1 paper
NM_001270616.2
p.S470F
c.1409C>T
1 paper
NM_001270616.2
p.N446N
c.1338C>T
1 paper
NM_001270616.2
p.T477K
c.1430C>A
1 paper
NM_001270616.2
p.R481C
c.1441C>T
1 paper
NM_001270616.2
p.P483S
c.1447C>T
1 paper
NM_001270616.2
p.F493I
c.1477T>A
1 paper
NM_001270616.2
p.F493L
c.1477T>C
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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."