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.Q1016_Q1017ins4

c.3048_3049ins12

Surrounding Variants

1 paper

NM_015225.3

p.S1018delins

c.3054delinsGCTGCAACAG

1 paper

NM_015225.3

p.S1018delins

c.3054delinsGCTGCAACAGTCA

5 papers

NM_015225.3

p.S1018_S1019ins4

c.3054_3055ins12

1 paper

NM_015225.3

p.S1019delins

c.3055delinsCTGCAACAGT

3 papers

NM_015225.3

p.S1019ins4

c.3055_3056ins12

1 paper

NM_015225.3

p.Q1013fs

c.3037_3038fs

1 paper

NM_015225.3

p.D1009N

c.3025G>A

8 papers

NM_015225.3

p.T1004M

c.3011C>T

1 paper

NM_015225.3

p.E982K

c.2944G>A

1 paper

NM_015225.3

p.A979V

c.2936C>T

1 paper

NM_015225.3

p.V1071V

c.3213C>A

2 papers

NM_015225.3

p.K928E

c.2782A>G