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.D905delFs

c.2713_2714delTC

Surrounding Variants

1 paper

NM_015225.3

p.D905_P906delFs

c.2715_2716delGA

4 papers

NM_015225.3

p.D905_P906del0

c.2713_2718del6

1 paper

NM_015225.3

p.V912I

c.2734G>A

1 paper

NM_015225.3

p.D899H

c.2695G>C

2 papers

NM_015225.3

p.K928E

c.2782A>G

1 paper

NM_015225.3

p.D874N

c.2620G>A

1 paper

NM_015225.3

p.K868N

c.2604A>T

1 paper

NM_015225.3

p.K868N

c.2604A>C

1 paper

NM_015225.3

p.G866delFs

c.2598delG

1 paper

NM_015225.3

p.G866fs

c.2596_2597fs

1 paper

NM_015225.3

p.A860G

c.2579C>G

1 paper

NM_015225.3

p.I856M

c.2568A>G