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.R311P

c.932G>C

Surrounding Variants

10 papers

NM_002691.4

p.R311H

c.932G>A

2 papers

NM_002691.4

p.R311S

c.931C>A

9 papers

NM_002691.4

p.R311C

c.931C>T

4 papers

NM_002691.4

p.V312M

c.934G>A

1 paper

NM_002691.4

p.S314N

c.941G>A

1 paper

NM_002691.4

p.S314I

c.941G>T

1 paper

NM_002691.4

p.A308T

c.922G>A

1 paper

NM_002691.4

p.A308P

c.922G>C

2 papers

NM_002691.4

p.I307M

c.921T>G

4 papers

NM_002691.4

p.I307V

c.919A>G

22 papers

NM_002691.4

p.D316N

c.946G>A

31 papers

NM_002691.4

p.D316H

c.946G>C