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.K36R

c.107A>G

Surrounding Variants

1 paper

NM_015316.3

p.E37G

c.110A>G

1 paper

NM_015316.3

p.E40Q

c.118G>C

1 paper

NM_015316.3

p.E40K

c.118G>A

1 paper

NM_015316.3

p.G41G

c.123C>T

1 paper

NM_015316.3

p.T27N

c.80C>A

1 paper

NM_015316.3

p.A46V

c.137C>T

1 paper

NM_015316.3

p.A46A

c.138T>A

1 paper

NM_015316.3

p.E47K

c.139G>A

1 paper

NM_015316.3

p.E25E

c.75A>G

1 paper

NM_015316.3

p.N52N

c.156T>C

1 paper

NM_015316.3

p.N12_E19del0

c.36_56del21

1 paper

NM_015316.3

p.E14K

c.40G>A