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.L2203*

c.6608T>A

Surrounding Variants

1 paper

NM_015225.3

p.L2203*

c.6608T>G

1 paper

NM_015225.3

p.V2221A

c.6662T>C

1 paper

NM_015225.3

p.A2184T

c.6550G>A

1 paper

NM_015225.3

p.D2247Y

c.6739G>T

1 paper

NM_015225.3

p.G2248C

c.6742G>T

1 paper

NM_015225.3

p.G2248S

c.6742G>A

1 paper

NM_015225.3

p.W2250C

c.6750G>T

1 paper

NM_015225.3

p.W2250C

c.6750G>C

1 paper

NM_015225.3

p.E2152V

c.6455A>T

1 paper

NM_015225.3

p.I2146M

c.6438T>G

1 paper

NM_015225.3

p.E2133K

c.6397G>A

1 paper

NM_015225.3

p.C2291Y

c.6872G>A