Varaico: Literature-Extracted Genetic Variants

PRUNE2

201 papers

RefSeq Summary

The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transfo...

Pfam Domains

DHHA2aa 210–362UCSCDHHA2 domain

BNIP2aa 2799–2915UCSCBcl2-/adenovirus E1B nineteen kDa-interacting protein 2

CRAL_TRIO_2aa 2916–3054UCSCDivergent CRAL/TRIO domain

Gene Aliases

HGNC Name

prune homolog 2 with BCH domain

HGNC Previous Symbols

C9orf65; KIAA0367

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015225.3

p.V2483V

c.7449T>A

Surrounding Variants

1 paper

NM_015225.3

p.E2486G

c.7457A>G

1 paper

NM_015225.3

p.V2487L

c.7459G>T

1 paper

NM_015225.3

p.V2487L

c.7459G>C

1 paper

NM_015225.3

p.A2496E

c.7487C>A

1 paper

NM_015225.3

p.S2439I

c.7316G>T

1 paper

NM_015225.3

p.R2438I

c.7313G>T

1 paper

NM_015225.3

p.E2413delFs

c.7239delT

1 paper

NM_015225.3

p.T2402P

c.7204A>C

1 paper

NM_015225.3

p.P2395S

c.7183C>T

1 paper

NM_015225.3

p.P2391fs

c.7171_7172fs

1 paper

NM_015225.3

p.P2391L

c.7172C>T

1 paper

NM_015225.3

p.A2390V

c.7169C>T