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.W1800*

c.5400G>A

Surrounding Variants

1 paper

NM_015225.3

p.W1800*

c.5399G>A

1 paper

NM_015225.3

p.A1799T

c.5395G>A

1 paper

NM_015225.3

p.Q1778*

c.5332C>T

1 paper

NM_015225.3

p.E1774D

c.5322G>T

1 paper

NM_015225.3

p.E1774D

c.5322G>C

1 paper

NM_015225.3

p.P1834S

c.5500C>T

1 paper

NM_015225.3

p.R1838*

c.5512A>T

1 paper

NM_015225.3

p.Q1760R

c.5279A>G

1 paper

NM_015225.3

p.D1758V

c.5273A>T

1 paper

NM_015225.3

p.S1859Y

c.5576C>A

1 paper

NM_015225.3

p.V1861L

c.5581G>T

1 paper

NM_015225.3

p.V1861L

c.5581G>C