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.S674I

c.2021G>T

Surrounding Variants

1 paper

NM_015225.3

p.S673Y

c.2018C>A

1 paper

NM_015225.3

p.W671L

c.2012G>T

1 paper

NM_015225.3

p.V679_F680insAG

c.2035_2039ins6

1 paper

NM_015225.3

p.G658C

c.1972G>T

1 paper

NM_015225.3

p.R652W

c.1954C>T

1 paper

NM_015225.3

p.G642D

c.1925G>A

1 paper

NM_015225.3

p.F710F

c.2130T>C

1 paper

NM_015225.3

p.E632*

c.1894G>T

1 paper

NM_015225.3

p.T631A

c.1891A>G

1 paper

NM_015225.3

p.P723S

c.2167C>T

1 paper

NM_015225.3

p.I730insFs

c.2188dupA

1 paper

NM_015225.3

p.L616V

c.1846T>G