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.A476V

c.1427C>T

Surrounding Variants

5 papers

NM_015225.3

p.E474*

c.1420G>T

1 paper

NM_015225.3

p.A482S

c.1444G>T

1 paper

NM_015225.3

p.E486V

c.1457A>T

1 paper

NM_015225.3

p.G488_E489ins5

c.1462_1466ins15

1 paper

NM_015225.3

p.G488D

c.1463G>A

1 paper

NM_015225.3

p.H459Q

c.1377C>G

1 paper

NM_015225.3

p.H459Q

c.1377C>A

1 paper

NM_015225.3

p.P458delFs

c.1374delA

1 paper

NM_015225.3

p.H459fs

c.1375_1376fs

1 paper

NM_015225.3

p.G457insFs

c.1369_1370insA

1 paper

NM_015225.3

p.G457fs

c.1369_1370fs

1 paper

NM_015225.3

p.A456G

c.1367C>G