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.R72R

c.214C>A

Surrounding Variants

1 paper

NM_015316.3

p.R72P

c.215G>C

1 paper

NM_015316.3

p.R72Q

c.215G>A

1 paper

NM_015316.3

p.R73S

c.219G>T

1 paper

NM_015316.3

p.G70S

c.208G>A

2 papers

NM_015316.3

p.Q67L

c.200A>T

1 paper

NM_015316.3

p.F78L

c.232T>C

1 paper

NM_015316.3

p.F78L

c.234T>G

1 paper

NM_015316.3

p.F78L

c.234T>A

1 paper

NM_015316.3

p.R81*

c.241C>T

1 paper

NM_015316.3

p.H82L

c.245A>T

1 paper

NM_015316.3

p.D59Y

c.175G>T

1 paper

NM_015316.3

p.P55T

c.163C>A