Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.R271H

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
Selected Variant
1 paper
NM_006663.4
p.R271H
c.812G>A
Surrounding Variants
1 paper
NM_006663.4
p.S268C
c.802A>T
3 papers
NM_006663.4
p.P246_L255delFs
c.736_764del29
1 paper
NM_006663.4
p.L255Q
c.764T>A
1 paper
NM_006663.4
p.D254Y
c.760G>T
1 paper
NM_006663.4
p.D254N
c.760G>A
3 papers
NM_006663.4
p.P246fs
c.736_737fs
1 paper
NM_006663.4
p.R243H
c.728G>A
1 paper
NM_006663.4
p.G224A
c.671G>C
1 paper
NM_006663.4
p.G219R
c.655G>C
1 paper
NM_006663.4
p.G219R
c.655G>A
1 paper
NM_006663.4
p.A213T
c.637G>A
1 paper
NM_006663.4
p.E199fs
c.595_596fs
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