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.R222H

c.665G>A

Surrounding Variants

2 papers

NM_014481.4

p.R222C

c.664C>T

1 paper

NM_014481.4

p.D219G

c.656A>G

1 paper

NM_014481.4

p.Q235*

c.703C>T

1 paper

NM_014481.4

p.C260W

c.780C>G

1 paper

NM_014481.4

p.R268H

c.803G>A

1 paper

NM_014481.4

p.H269Y

c.805C>T

1 paper

NM_014481.4

p.L270F

c.808C>T

3 papers

NM_014481.4

p.D277A

c.830A>C

1 paper

NM_014481.4

p.R327C

c.979C>T

1 paper

NM_014481.4

p.L329F

c.985C>T

1 paper

NM_014481.4

p.T335T

c.1005C>T

1 paper

NM_014481.4

p.T356fs

c.1066_1067fs