Varaico: Literature-Extracted Genetic Variants

Gene:PROSER1
Variant:p.A91V

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.A91V
c.272C>T
Surrounding Variants
1 paper
NM_025138.5
p.L74I
c.220C>A
1 paper
NM_025138.5
p.S92L
c.275C>T
1 paper
NM_025138.5
p.R119delFs
c.355_356delCT
1 paper
NM_025138.5
p.G144R
c.430G>C
1 paper
NM_025138.5
p.G144R
c.430G>A
1 paper
NM_025138.5
p.R154C
c.460C>T
1 paper
NM_025138.5
p.R154H
c.461G>A
1 paper
NM_025138.5
p.S153_P160delFs
c.457_478del22
1 paper
NM_025138.5
p.G175fs
c.523_524fs
1 paper
NM_025138.5
p.R181Q
c.542G>A
1 paper
NM_025138.5
p.G175_I182delFs
c.523_544del22
1 paper
NM_025138.5
p.L18W
c.53T>G
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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."