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.L3055_R3056ins12

c.9163_9167ins36

Surrounding Variants

5 papers

NM_015225.3

p.E3054_L3055ins12

c.9160_9164ins36

1 paper

NM_015225.3

p.D3052E

c.9156T>G

1 paper

NM_015225.3

p.D3052E

c.9156T>A

1 paper

NM_015225.3

p.A3062V

c.9185C>T

1 paper

NM_015225.3

p.I3048_I3049ins12

c.9142_9146ins36

1 paper

NM_015225.3

p.E3046G

c.9137A>G

1 paper

NM_015225.3

p.K3019N

c.9057A>T

1 paper

NM_015225.3

p.K3019N

c.9057A>C

1 paper

NM_015225.3

p.S3018L

c.9053C>T

1 paper

NM_015225.3

p.S3018*

c.9053C>G

1 paper

NM_015225.3

p.S3018*

c.9053C>A

1 paper

NM_015225.3

p.S3017Splc

c.9051-2A>T