Varaico: Literature-Extracted Genetic Variants

PPP1R13B

388 papers

RefSeq Summary

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protei...

Pfam Domains

ASPP2-like_RAaa 3–82UCSCApoptosis-stimulating of p53 protein 2-like, N-terminal RA domain

Ankaa 920–952UCSCAnkyrin repeat

Ankaa 953–985UCSCAnkyrin repeat

SH3_1aa 1025–1073UCSCSH3 domain

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 13B

HGNC Alias Symbols

p53BP2-like; KIAA0771; p85; ASPP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015316.3

p.G208A

c.623G>C

Surrounding Variants

1 paper

NM_015316.3

p.S211Splc

c.631+4C>G

1 paper

NM_015316.3

p.D201A

c.602A>C

1 paper

NM_015316.3

p.R194L

c.581G>T

1 paper

NM_015316.3

p.K192delFs

c.576delT

1 paper

NM_015316.3

p.A185G

c.554C>G

1 paper

NM_015316.3

p.Q177fs

c.529_530fs

2 papers

NM_015316.3

p.E174Q

c.520G>C

1 paper

NM_015316.3

p.N173fs

c.517_518fs

2 papers

NM_015316.3

p.E172Q

c.514G>C

1 paper

NM_015316.3

p.S169delFs

c.507delA

1 paper

NM_015316.3

p.Q167_Q168insFs

c.501_502insC

1 paper

NM_015316.3

p.R165P

c.494G>C