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.L340L

c.1020G>A

Surrounding Variants

1 paper

NM_002691.4

p.G341S

c.1021G>A

1 paper

NM_002691.4

p.L342M

c.1024C>A

1 paper

NM_002691.4

p.S339L

c.1016C>T

1 paper

NM_002691.4

p.C338W

c.1014C>G

1 paper

NM_002691.4

p.R343S

c.1027C>A

5 papers

NM_002691.4

p.R343C

c.1027C>T

2 papers

NM_002691.4

p.R343H

c.1028G>A

1 paper

NM_002691.4

p.R343P

c.1028G>C

1 paper

NM_002691.4

p.W344delFs

c.1030delT

3 papers

NM_002691.4

p.W344fs

c.1030_1031fs

3 papers

NM_002691.4

p.E346delFs

c.1036delG

1 paper

NM_002691.4

p.Q336R

c.1007A>G