Varaico: Literature-Extracted Genetic Variants

Gene:PROSER1
Variant:p.P446L

PROSER1

51 papers

RefSeq Summary

This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012].

Pfam Domains

DUF4476aa 29–121UCSCDomain of unknown function (DUF4476)

Gene Aliases

HGNC Name

proline and serine rich 1

HGNC Previous Symbol

C13orf23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025138.5
p.P446L
c.1337C>T
Surrounding Variants
1 paper
NM_025138.5
p.F429fs
c.1285_1286fs
1 paper
NM_025138.5
p.S513L
c.1538C>T
1 paper
NM_025138.5
p.T526P
c.1576A>C
1 paper
NM_025138.5
p.T355_T356del2
c.1063_1067del6
1 paper
NM_025138.5
p.T355_T356del1
c.1065_1067delGTG
1 paper
NM_025138.5
p.A536T
c.1606G>A
1 paper
NM_025138.5
p.T355ins4
c.1064_1065ins12
1 paper
NM_025138.5
p.I337V
c.1009A>G
1 paper
NM_025138.5
p.A565T
c.1693G>A
1 paper
NM_025138.5
p.S566P
c.1696T>C
1 paper
NM_025138.5
p.V324V
c.972T>G
1 paper
NM_025138.5
p.S568P
c.1702T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."