Varaico: Literature-Extracted Genetic Variants

Gene:PRRX1
Variant:p.R18delFs

PRRX1

78 papers

RefSeq Summary

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA...

Pfam Domains

Homeodomainaa 95–151UCSCHomeodomain
OARaa 219–235UCSCOAR motif

Gene Aliases

HGNC Name

paired related homeobox 1

HGNC Previous Symbol

PMX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022716.4
p.R18delFs
c.52delC
Surrounding Variants
1 paper
NM_022716.4
p.G17D
c.50G>A
2 papers
NM_022716.4
p.G17S
c.49G>A
1 paper
NM_022716.4
p.R18S
c.52C>A
1 paper
NM_022716.4
p.R18fs
c.52_53fs
1 paper
NM_022716.4
p.A14P
c.40G>C
1 paper
NM_022716.4
p.Y5C
c.14A>G
1 paper
NM_022716.4
p.A30A
c.90G>C
1 paper
NM_022716.4
p.M1_T2insFs
c.3_4insA
1 paper
NM_022716.4
p.M1R
c.2T>G
1 paper
NM_022716.4
p.V36L
c.106G>C
1 paper
NM_022716.4
p.H38insFs
c.113dupA
1 paper
NM_022716.4
p.H38Y
c.112C>T
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