Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.P537delFs

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.P537delFs
c.1610delG
Surrounding Variants
4 papers
NM_006663.4
p.P537fs
c.1609_1610fs
1 paper
NM_006663.4
p.P531fs
c.1591_1592fs
1 paper
NM_006663.4
p.P531delFs
c.1591_1592delGG
1 paper
NM_006663.4
p.P531H
c.1592C>A
1 paper
NM_006663.4
p.R523H
c.1568G>A
1 paper
NM_006663.4
p.R553S
c.1657C>A
2 papers
NM_006663.4
p.V513delFs
c.1537delC
3 papers
NM_006663.4
p.V513fs
c.1537_1538fs
1 paper
NM_006663.4
p.L488L
c.1464C>G
1 paper
NM_006663.4
p.P590T
c.1768C>A
1 paper
NM_006663.4
p.T458fs
c.1372_1373fs
1 paper
NM_006663.4
p.T458P
c.1372A>C
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