Varaico: Literature-Extracted Genetic Variants

Gene:PROSER1

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
1–12 of 53 variants
3 papers
NM_025138.5
p.V228I
c.682G>A
2 papers
NM_025138.5
p.V571A
c.1712T>C
2 papers
NM_025138.5
p.P611delFs
c.1833delG
2 papers
NM_025138.5
p.L660F
c.1980G>T
2 papers
NM_025138.5
p.L660F
c.1980G>C
2 papers
NM_025138.5
p.A802V
c.2405C>T
2 papers
NM_025138.5
p.A910V
c.2729C>T
1 paper
NM_025138.5
p.D11Fs
c.33delinsACTTCFs
1 paper
NM_025138.5
p.V17G
c.50T>G
1 paper
NM_025138.5
p.L18W
c.53T>G
1 paper
NM_025138.5
p.L74I
c.220C>A
1 paper
NM_025138.5
p.A91V
c.272C>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."