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.D759A

c.2276A>C

Surrounding Variants

1 paper

NM_015316.3

p.D757D

c.2271T>C

1 paper

NM_015316.3

p.A765T

c.2293G>A

1 paper

NM_015316.3

p.P747_G753del0

c.2240_2257del18

1 paper

NM_015316.3

p.M752delins

c.2255delinsT

1 paper

NM_015316.3

p.S746_M752delins

c.2237_2255delinsT

1 paper

NM_015316.3

p.F751delins

c.2251delinsC

1 paper

NM_015316.3

p.S746_D750del0

c.2236_2250del15

1 paper

NM_015316.3

p.D750delins

c.2248delinsC

1 paper

NM_015316.3

p.S748T

c.2242T>A

1 paper

NM_015316.3

p.P774fs

c.2320_2321fs

1 paper

NM_015316.3

p.P774delFs

c.2321delG

1 paper

NM_015316.3

p.T740A

c.2218A>G