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.G390S

c.1168G>A

Surrounding Variants

2 papers

NM_015225.3

p.P395L

c.1184C>T

1 paper

NM_015225.3

p.P395P

c.1185A>G

1 paper

NM_015225.3

p.G381E

c.1142G>A

1 paper

NM_015225.3

p.V400M

c.1198G>A

4 papers

NM_015225.3

p.L378V

c.1132C>G

1 paper

NM_015225.3

p.I403K

c.1208T>A

1 paper

NM_015225.3

p.P407S

c.1219C>T

1 paper

NM_015225.3

p.D411N

c.1231G>A

1 paper

NM_015225.3

p.S367F

c.1100C>T

2 papers

NM_015225.3

p.R365Q

c.1094G>A

1 paper

NM_015225.3

p.P426P

c.1278A>G

1 paper

NM_015225.3

p.S425_P426del1

c.1275_1277delGGG