Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R13L
Variant:p.E776K

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.E776K
c.2326G>A
Surrounding Variants
1 paper
NM_006663.4
p.E772E
c.2316G>A
2 papers
NM_006663.4
p.R780C
c.2338C>T
1 paper
NM_006663.4
p.Y769N
c.2305T>A
1 paper
NM_006663.4
p.Y764Y
c.2292C>T
1 paper
NM_006663.4
p.E794*
c.2380G>T
6 papers
NM_006663.4
p.W799S
c.2396G>C
1 paper
NM_006663.4
p.W799C
c.2397G>T
1 paper
NM_006663.4
p.W799C
c.2397G>C
1 paper
NM_006663.4
p.A802T
c.2404G>A
1 paper
NM_006663.4
p.A802V
c.2405C>T
1 paper
NM_006663.4
p.V810M
c.2428G>A
1 paper
NM_006663.4
p.D750Splc
c.2248+1167G>T
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