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.S1538R

c.4614T>A

Surrounding Variants

1 paper

NM_015225.3

p.S1538R

c.4614T>G

1 paper

NM_015225.3

p.S1538R

c.4612A>C

2 papers

NM_015225.3

p.N1551D

c.4651A>G

1 paper

NM_015225.3

p.E1519K

c.4555G>A

1 paper

NM_015225.3

p.S1518P

c.4552T>C

1 paper

NM_015225.3

p.Q1562H

c.4686G>T

1 paper

NM_015225.3

p.P1482R

c.4445C>G

1 paper

NM_015225.3

p.N1476N

c.4428C>T

1 paper

NM_015225.3

p.V1458G

c.4373T>G

1 paper

NM_015225.3

p.T1453I

c.4358C>T

1 paper

NM_015225.3

p.S1660N

c.4979G>A

1 paper

NM_015225.3

p.G1406E

c.4217G>A