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.T2718_H2719delFs

c.8154_8155delGG

Surrounding Variants

1 paper

NM_015225.3

p.H2719fs

c.8155_8156fs

4 papers

NM_015225.3

p.T2713_T2718del6

c.8137_8153del18

1 paper

NM_015225.3

p.H2719delFs

c.8157delA

1 paper

NM_015225.3

p.T2718fs

c.8152_8153fs

5 papers

NM_015225.3

p.T2713_T2718del0

c.8139_8153del15

1 paper

NM_015225.3

p.D2720fs

c.8158_8159fs

1 paper

NM_015225.3

p.V2717delFs

c.8150_8151delGA

1 paper

NM_015225.3

p.V2717fs

c.8149_8150fs

4 papers

NM_015225.3

p.N2721S

c.8162A>G

1 paper

NM_015225.3

p.D2720_N2721delFs

c.8159_8162del4

1 paper

NM_015225.3

p.Q2715_A2716del2

c.8143_8147del6

1 paper

NM_015225.3

p.Q2715_A2716del1

c.8145_8147delGCC