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

Selected Variant

2 papers

NM_014481.4

p.F85L

c.255C>G

Surrounding Variants

2 papers

NM_014481.4

p.F85L

c.255C>A

2 papers

NM_014481.4

p.F85L

c.253T>C

1 paper

NM_014481.4

p.E96Q

c.286G>C

1 paper

NM_014481.4

p.L102L

c.306G>A

1 paper

NM_014481.4

p.F103C

c.308T>G

1 paper

NM_014481.4

p.Q106H

c.318G>C

1 paper

NM_014481.4

p.Q106H

c.318G>T

2 papers

NM_014481.4

p.R125W

c.373C>T

1 paper

NM_014481.4

p.A126S

c.376G>T

1 paper

NM_014481.4

p.L127M

c.379C>A

1 paper

NM_014481.4

p.T136P

c.406A>C

1 paper

NM_014481.4

p.R141C

c.421C>T