Varaico: Literature-Extracted Genetic Variants

Gene:PROSER1
Variant:p.Y914C

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.Y914C
c.2741A>G
Surrounding Variants
1 paper
NM_025138.5
p.A916S
c.2746G>T
2 papers
NM_025138.5
p.A910V
c.2729C>T
1 paper
NM_025138.5
p.D919H
c.2755G>C
1 paper
NM_025138.5
p.A816T
c.2446G>A
1 paper
NM_025138.5
p.P804S
c.2410C>T
2 papers
NM_025138.5
p.A802V
c.2405C>T
1 paper
NM_025138.5
p.T728I
c.2183C>T
1 paper
NM_025138.5
p.T710I
c.2129C>T
1 paper
NM_025138.5
p.L663L
c.1989C>G
2 papers
NM_025138.5
p.L660F
c.1980G>T
2 papers
NM_025138.5
p.L660F
c.1980G>C
1 paper
NM_025138.5
p.R641C
c.1921C>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."