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.H207L

c.620A>T

Surrounding Variants

1 paper

NM_014481.4

p.W208R

c.622T>A

1 paper

NM_014481.4

p.W208R

c.622T>C

1 paper

NM_014481.4

p.R203C

c.607C>T

2 papers

NM_014481.4

p.D197N

c.589G>A

1 paper

NM_014481.4

p.H191L

c.572A>T

1 paper

NM_014481.4

p.A184S

c.550G>T

1 paper

NM_014481.4

p.L178Q

c.533T>A

1 paper

NM_014481.4

p.R173C

c.517C>T

1 paper

NM_014481.4

p.P165L

c.494C>T

1 paper

NM_014481.4

p.P165S

c.493C>T

1 paper

NM_014481.4

p.G163G

c.489G>A

1 paper

NM_014481.4

p.V155M

c.463G>A