Varaico: Literature-Extracted Genetic Variants

POLD1

951 papers

RefSeq Summary

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication a...

Pfam Domains

POL3_Naa 143–221UCSCDNA polymerase delta catalytic subunit-like, N-terminal domain

DNA_pol_B_exo1aa 241–477UCSCDNA polymerase family B, exonuclease domain

DNA_pol_Baa 541–595UCSCDNA polymerase family B

DNA_pol_Baa 541–973UCSCDNA polymerase family B

zf-C4polaa 1012–1082UCSCC4-type zinc-finger of DNA polymerase delta

Gene Aliases

HGNC Name

DNA polymerase delta 1, catalytic subunit

HGNC Previous Names

polymerase (DNA directed), delta 1, catalytic subunit (125kD); polymerase (DNA) delta 1, catalytic subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002691.4

p.F135L

c.405C>A

Surrounding Variants

1 paper

NM_002691.4

p.F135L

c.405C>G

1 paper

NM_002691.4

p.F135S

c.404T>C

1 paper

NM_002691.4

p.S136P

c.406T>C

1 paper

NM_002691.4

p.S136A

c.406T>G

1 paper

NM_002691.4

p.S136C

c.407C>G

1 paper

NM_002691.4

p.S136F

c.407C>T

2 papers

NM_002691.4

p.F135L

c.403T>C

1 paper

NM_002691.4

p.F135V

c.403T>G

6 papers

NM_002691.4

p.V137I

c.409G>A

1 paper

NM_002691.4

p.G134E

c.401G>A

1 paper

NM_002691.4

p.G134A

c.401G>C

1 paper

NM_002691.4

p.V137L

c.409G>C