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

1 paper

NM_014481.4

p.P502S

c.1504C>T

Surrounding Variants

1 paper

NM_014481.4

p.R499W

c.1495C>T

1 paper

NM_014481.4

p.P498S

c.1492C>T

1 paper

NM_014481.4

p.R497S

c.1491G>C

1 paper

NM_014481.4

p.R497S

c.1491G>T

1 paper

NM_014481.4

p.S506S

c.1518C>T

1 paper

NM_014481.4

p.A496P

c.1486G>C

1 paper

NM_014481.4

p.R508Q

c.1523G>A

1 paper

NM_014481.4

p.R491C

c.1471C>T

1 paper

NM_014481.4

p.R490H

c.1469G>A

1 paper

NM_014481.4

p.G489A

c.1466G>C

1 paper

NM_014481.4

p.L488F

c.1464G>C

1 paper

NM_014481.4

p.L488F

c.1464G>T