Varaico: Literature-Extracted Genetic Variants

Gene:PSRC1
Variant:p.E2*

PSRC1

59 papers

RefSeq Summary

This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microt...

Pfam Domains

GTSE1_Naa 8–106UCSCG-2 and S-phase expressed 1

Gene Aliases

HGNC Name

proline and serine rich coiled-coil 1

HGNC Alias Symbol

DDA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001032291.3
p.E2*
c.4G>T
Surrounding Variants
1 paper
NM_001032291.3
p.M1V
c.1A>G
1 paper
NM_001032291.3
p.D7Splc
c.20-13C>T
1 paper
NM_001032291.3
p.V12E
c.35T>A
1 paper
NM_001032291.3
p.D25H
c.73G>C
3 papers
NM_001032291.3
p.R27H
c.80G>A
1 paper
NM_001032291.3
p.P59L
c.176C>T
1 paper
NM_001032291.3
p.L66L
c.198A>T
1 paper
NM_001032291.3
p.L69I
c.205C>A
1 paper
NM_001032291.3
p.A81G
c.242C>G
1 paper
NM_001032291.3
p.R83W
c.247C>T
2 papers
NM_001032291.3
p.A86V
c.257C>T
1 paper
NM_001032291.3
p.S98R
c.292A>C
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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."