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

2 papers

NM_015316.3

p.N822K

c.2466C>G

Surrounding Variants

2 papers

NM_015316.3

p.N822K

c.2466C>A

1 paper

NM_015316.3

p.N822I

c.2465A>T

1 paper

NM_015316.3

p.N822Y

c.2464A>T

1 paper

NM_015316.3

p.N823N

c.2469C>T

1 paper

NM_015316.3

p.V824M

c.2470G>A

1 paper

NM_015316.3

p.E839K

c.2515G>A

1 paper

NM_015316.3

p.N792H

c.2374A>C

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.A765T

c.2293G>A

1 paper

NM_015316.3

p.D759A

c.2276A>C

1 paper

NM_015316.3

p.D757D

c.2271T>C