Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L

PPP1R13L

90 papers

RefSeq Summary

IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008].

Pfam Domains

Ank_2aa 631–723UCSCAnkyrin repeats (3 copies)
SH3_9aa 765–815UCSCVariant SH3 domain

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 13 like

HGNC Alias Symbol

IASPP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
7 papers
NM_006663.4
p.Y747*
c.2241C>G
7 papers
NM_006663.4
p.Y747*
c.2241C>A
6 papers
NM_006663.4
p.W799S
c.2396G>C
4 papers
NM_006663.4
p.K23*
c.67A>T
4 papers
NM_006663.4
p.Q407*
c.1219C>T
4 papers
NM_006663.4
p.P537fs
c.1609_1610fs
4 papers
NM_006663.4
p.P537delFs
c.1610delG
4 papers
NM_006663.4
p.T723P
c.2167A>C
3 papers
NM_006663.4
p.Q194*
c.580C>T
3 papers
NM_006663.4
p.P246fs
c.736_737fs
3 papers
NM_006663.4
p.P246_L255delFs
c.736_764del29
3 papers
NM_006663.4
p.R330insFs
c.988_989insC
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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."