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

1–12 of 319 variants

8 papers

NM_015225.3

p.T1004M

c.3011C>T

5 papers

NM_015225.3

p.E474*

c.1420G>T

5 papers

NM_015225.3

p.S1018_S1019ins4

c.3054_3055ins12

5 papers

NM_015225.3

p.T2713_T2718del0

c.8139_8153del15

5 papers

NM_015225.3

p.E3054_L3055ins12

c.9160_9164ins36

4 papers

NM_015225.3

p.L378V

c.1132C>G

4 papers

NM_015225.3

p.V452M

c.1354G>A

4 papers

NM_015225.3

p.E537*

c.1609G>T

4 papers

NM_015225.3

p.D905_P906del0

c.2713_2718del6

4 papers

NM_015225.3

p.S1281F

c.3842C>T

4 papers

NM_015225.3

p.T2713_T2718del6

c.8137_8153del18

4 papers

NM_015225.3

p.N2721S

c.8162A>G