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

1–12 of 2208 variants

112 papers

NM_002691.4

p.S478N

c.1433G>A

43 papers

NM_002691.4

p.L474P

c.1421T>C

41 papers

NM_002691.4

p.S605del1

c.1813_1814delTCG

31 papers

NM_002691.4

p.D316H

c.946G>C

28 papers

NM_002691.4

p.R119H

c.356G>A

28 papers

NM_002691.4

p.V759I

c.2275G>A

27 papers

NM_002691.4

p.S604_S605del1

c.1812_1814delCTC

27 papers

NM_002691.4

p.R689W

c.2065C>T

26 papers

NM_002691.4

p.R507C

c.1519C>T

25 papers

NM_002691.4

p.D316G

c.947A>G

23 papers

NM_002691.4

p.P327L

c.980C>T

22 papers

NM_002691.4

p.D316N

c.946G>A