Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.R624fs

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.R624fs
c.1870_1871fs
Surrounding Variants
2 papers
NM_006663.4
p.A623A
c.1869G>A
1 paper
NM_006663.4
p.A623T
c.1867G>A
1 paper
NM_006663.4
p.R624delFs
c.1871_1872delGC
2 papers
NM_006663.4
p.A620P
c.1858G>C
1 paper
NM_006663.4
p.L630F
c.1888C>T
1 paper
NM_006663.4
p.S616P
c.1846T>C
1 paper
NM_006663.4
p.G638R
c.1912G>C
1 paper
NM_006663.4
p.G638R
c.1912G>A
1 paper
NM_006663.4
p.K648N
c.1944G>T
1 paper
NM_006663.4
p.K648N
c.1944G>C
1 paper
NM_006663.4
p.N651fs
c.1951_1952fs
2 papers
NM_006663.4
p.Q655H
c.1965G>T
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