Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.T723P

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
4 papers
NM_006663.4
p.T723P
c.2167A>C
Surrounding Variants
1 paper
NM_006663.4
p.F720F
c.2160C>T
1 paper
NM_006663.4
p.G716D
c.2147G>A
1 paper
NM_006663.4
p.D705N
c.2113G>A
1 paper
NM_006663.4
p.A700E
c.2099C>A
7 papers
NM_006663.4
p.Y747*
c.2241C>G
7 papers
NM_006663.4
p.Y747*
c.2241C>A
1 paper
NM_006663.4
p.I668V
c.2002A>G
2 papers
NM_006663.4
p.Q655H
c.1965G>T
2 papers
NM_006663.4
p.Q655H
c.1965G>C
1 paper
NM_006663.4
p.N651fs
c.1951_1952fs
1 paper
NM_006663.4
p.K648N
c.1944G>T
1 paper
NM_006663.4
p.K648N
c.1944G>C
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