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.R375C

c.1123C>T

Surrounding Variants

1 paper

NM_014481.4

p.A372V

c.1115C>T

2 papers

NM_014481.4

p.A372T

c.1114G>A

1 paper

NM_014481.4

p.Q380*

c.1138C>T

1 paper

NM_014481.4

p.C368*

c.1104C>A

1 paper

NM_014481.4

p.Q383insFs

c.1149dupG

1 paper

NM_014481.4

p.T363T

c.1089C>A

1 paper

NM_014481.4

p.T363fs

c.1087_1088fs

1 paper

NM_014481.4

p.Q390R

c.1169A>G

1 paper

NM_014481.4

p.N392H

c.1174A>C

1 paper

NM_014481.4

p.T356fs

c.1066_1067fs

2 papers

NM_014481.4

p.Q398H

c.1194G>C

2 papers

NM_014481.4

p.Q398H

c.1194G>T