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.Q2115E

c.6343C>G

Surrounding Variants

1 paper

NM_015225.3

p.E2133K

c.6397G>A

1 paper

NM_015225.3

p.I2146M

c.6438T>G

1 paper

NM_015225.3

p.E2152V

c.6455A>T

1 paper

NM_015225.3

p.W2071L

c.6212G>T

2 papers

NM_015225.3

p.A2067T

c.6199G>A

1 paper

NM_015225.3

p.Q2058E

c.6172C>G

1 paper

NM_015225.3

p.A2184T

c.6550G>A

1 paper

NM_015225.3

p.R2045Q

c.6134G>A

1 paper

NM_015225.3

p.K2030T

c.6089A>C

1 paper

NM_015225.3

p.L2203*

c.6608T>G

1 paper

NM_015225.3

p.L2203*

c.6608T>A

1 paper

NM_015225.3

p.S2011*

c.6032C>G