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.L464fs

c.1390_1391fs

Surrounding Variants

1 paper

NM_014481.4

p.P463L

c.1388C>T

1 paper

NM_014481.4

p.R465C

c.1393C>T

1 paper

NM_014481.4

p.R465H

c.1394G>A

1 paper

NM_014481.4

p.G462E

c.1385G>A

1 paper

NM_014481.4

p.P467L

c.1400C>T

1 paper

NM_014481.4

p.R452W

c.1354C>T

2 papers

NM_014481.4

p.E448*

c.1342G>T

1 paper

NM_014481.4

p.K482_K483del1

c.1445_1447delAGA

1 paper

NM_014481.4

p.E444*

c.1330G>T

1 paper

NM_014481.4

p.L488F

c.1464G>C

1 paper

NM_014481.4

p.L488F

c.1464G>T

1 paper

NM_014481.4

p.G489A

c.1466G>C