Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.R330fs

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.R330fs
c.988_989fs
Surrounding Variants
3 papers
NM_006663.4
p.R330insFs
c.988_989insC
1 paper
NM_006663.4
p.R330fs
c.988_989fs
1 paper
NM_006663.4
p.D325E
c.975C>G
1 paper
NM_006663.4
p.D325E
c.975C>A
1 paper
NM_006663.4
p.A319_D321insFs
c.956_962dup7
1 paper
NM_006663.4
p.S316A
c.946T>G
1 paper
NM_006663.4
p.W346L
c.1037G>T
1 paper
NM_006663.4
p.M354L
c.1060A>T
1 paper
NM_006663.4
p.M354L
c.1060A>C
1 paper
NM_006663.4
p.M354T
c.1061T>C
2 papers
NM_006663.4
p.P356insFs
c.1068dupC
1 paper
NM_006663.4
p.S357A
c.1069T>G
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