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

3 papers

NM_015225.3

p.N817D

c.2449A>G

Surrounding Variants

1 paper

NM_015225.3

p.T815I

c.2444C>T

1 paper

NM_015225.3

p.S827P

c.2479T>C

1 paper

NM_015225.3

p.E806Q

c.2416G>C

1 paper

NM_015225.3

p.S845Y

c.2534C>A

1 paper

NM_015225.3

p.I856M

c.2568A>G

1 paper

NM_015225.3

p.A860G

c.2579C>G

1 paper

NM_015225.3

p.G866fs

c.2596_2597fs

1 paper

NM_015225.3

p.G866delFs

c.2598delG

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.H760R

c.2279A>G

1 paper

NM_015225.3

p.D874N

c.2620G>A