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.M1157I

c.3471G>C

Surrounding Variants

1 paper

NM_015225.3

p.M1157I

c.3471G>T

1 paper

NM_015225.3

p.M1157I

c.3471G>A

1 paper

NM_015225.3

p.A1146V

c.3437C>T

1 paper

NM_015225.3

p.A1145V

c.3434C>T

1 paper

NM_015225.3

p.A1145fs

c.3433_3434fs

2 papers

NM_015225.3

p.G1144insFs

c.3431dupG

1 paper

NM_015225.3

p.G1144fs

c.3430_3431fs

1 paper

NM_015225.3

p.E1181K

c.3541G>A

1 paper

NM_015225.3

p.D1133N

c.3397G>A

1 paper

NM_015225.3

p.W1187L

c.3560G>T

1 paper

NM_015225.3

p.E1121D

c.3363G>T

1 paper

NM_015225.3

p.E1121G

c.3362A>G