Varaico: Literature-Extracted Genetic Variants

APEX2

87 papers

RefSeq Summary

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutage...

Pfam Domains

Exo_endo_phosaa 5–304UCSCEndonuclease/Exonuclease/phosphatase family

Zn_ribbon_GRFaa 467–517UCSCGRF zinc finger

Gene Aliases

HGNC Name

apurinic/apyrimidinic endodeoxyribonuclease 2

HGNC Alias Symbols

APEXL2; APE2; XTH2; ZGRF2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 98 variants

3 papers

NM_014481.4

p.D277A

c.830A>C

2 papers

NM_014481.4

p.I62I

c.186C>T

2 papers

NM_014481.4

p.F85L

c.253T>C

2 papers

NM_014481.4

p.F85L

c.255C>A

2 papers

NM_014481.4

p.F85L

c.255C>G

2 papers

NM_014481.4

p.R125W

c.373C>T

2 papers

NM_014481.4

p.D197N

c.589G>A

2 papers

NM_014481.4

p.R222C

c.664C>T

2 papers

NM_014481.4

p.A372T

c.1114G>A

2 papers

NM_014481.4

p.Q398H

c.1194G>C

2 papers

NM_014481.4

p.Q398H

c.1194G>T

2 papers

NM_014481.4

p.E448*

c.1342G>T