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.Q511delFs

c.1532delT

Surrounding Variants

1 paper

NM_015316.3

p.Q511fs

c.1531_1532fs

1 paper

NM_015316.3

p.Q511delFs

c.1531delG

1 paper

NM_015316.3

p.P504L

c.1511C>T

1 paper

NM_015316.3

p.L502_L503insYA

c.1504_1508ins6

1 paper

NM_015316.3

p.S523A

c.1567T>G

1 paper

NM_015316.3

p.Q498Q

c.1494G>A

1 paper

NM_015316.3

p.G493delins

c.1478_1479delinsTT

6 papers

NM_015316.3

p.P539R

c.1616C>G

8 papers

NM_015316.3

p.D542N

c.1624G>A

1 paper

NM_015316.3

p.R481W

c.1441A>T

1 paper

NM_015316.3

p.G474R

c.1420G>C

1 paper

NM_015316.3

p.G474R

c.1420G>A