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

1–12 of 142 variants

8 papers

NM_015316.3

p.D542N

c.1624G>A

6 papers

NM_015316.3

p.P539R

c.1616C>G

3 papers

NM_015316.3

p.G719A

c.2156G>C

2 papers

NM_015316.3

p.Q67L

c.200A>T

2 papers

NM_015316.3

p.E172Q

c.514G>C

2 papers

NM_015316.3

p.E174Q

c.520G>C

2 papers

NM_015316.3

p.N822K

c.2466C>G

2 papers

NM_015316.3

p.N822K

c.2466C>A

2 papers

NM_015316.3

p.G1043G

c.3129G>T

1 paper

NM_015316.3

p.M1Fs

c.2delinsCTGFs

1 paper

NM_015316.3

p.M4I

c.12G>C

1 paper

NM_015316.3

p.S11R

c.33C>A