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

1 paper

NM_002691.4

p.I317L

c.949A>C

Surrounding Variants

2 papers

NM_002691.4

p.I317T

c.950T>C

2 papers

NM_002691.4

p.D316A

c.947A>C

25 papers

NM_002691.4

p.D316G

c.947A>G

1 paper

NM_002691.4

p.D316V

c.947A>T

1 paper

NM_002691.4

p.I317M

c.951C>G

22 papers

NM_002691.4

p.D316N

c.946G>A

16 papers

NM_002691.4

p.E318K

c.952G>A

31 papers

NM_002691.4

p.D316H

c.946G>C

2 papers

NM_002691.4

p.E318Q

c.952G>C

3 papers

NM_002691.4

p.E318A

c.953A>C

4 papers

NM_002691.4

p.E318G

c.953A>G

1 paper

NM_002691.4

p.E318_C319delFs

c.954_957del4