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.A950S

c.2848G>T

Surrounding Variants

1 paper

NM_015316.3

p.D919G

c.2756A>G

1 paper

NM_015316.3

p.P914S

c.2740C>T

1 paper

NM_015316.3

p.A890S

c.2668G>T

1 paper

NM_015316.3

p.R885Q

c.2654G>A

1 paper

NM_015316.3

p.L969R

c.2906T>G

1 paper

NM_015316.3

p.A982A

c.2946C>T

1 paper

NM_015316.3

p.A991P

c.2971G>C

1 paper

NM_015316.3

p.D993A

c.2978A>C

1 paper

NM_015316.3

p.E839K

c.2515G>A

1 paper

NM_015316.3

p.V824M

c.2470G>A

1 paper

NM_015316.3

p.N823N

c.2469C>T

2 papers

NM_015316.3

p.N822K

c.2466C>G