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.P1315T

c.3943C>A

Surrounding Variants

1 paper

NM_015225.3

p.P1313Q

c.3938C>A

1 paper

NM_015225.3

p.L1300_A1301del1

c.3900_3902delGCC

1 paper

NM_015225.3

p.Q1331*

c.3991C>T

1 paper

NM_015225.3

p.A1346T

c.4036G>A

1 paper

NM_015225.3

p.L1283F

c.3847C>T

2 papers

NM_015225.3

p.H1282P

c.3845A>C

4 papers

NM_015225.3

p.S1281F

c.3842C>T

1 paper

NM_015225.3

p.A1278G

c.3833C>G

1 paper

NM_015225.3

p.E1275_E1277del3

c.3823_3830del9

1 paper

NM_015225.3

p.S1353L

c.4058C>T

1 paper

NM_015225.3

p.G1272R

c.3814G>C

1 paper

NM_015225.3

p.G1272R

c.3814G>A