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

41 papers

NM_002691.4

p.S605del1

c.1813_1814delTCG

Surrounding Variants

1 paper

NM_002691.4

p.S605A

c.1813T>G

22 papers

NM_002691.4

p.L606M

c.1816C>A

3 papers

NM_002691.4

p.L606V

c.1816C>G

27 papers

NM_002691.4

p.S604_S605del1

c.1812_1814delCTC

1 paper

NM_002691.4

p.D602A

c.1805A>C

3 papers

NM_002691.4

p.Y607H

c.1819T>C

1 paper

NM_002691.4

p.P608Q

c.1823C>A

2 papers

NM_002691.4

p.P608L

c.1823C>T

1 paper

NM_002691.4

p.T600I

c.1799C>T

5 papers

NM_002691.4

p.A599T

c.1795G>A

1 paper

NM_002691.4

p.M611L

c.1831A>C

1 paper

NM_002691.4

p.M611L

c.1831A>T