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.G324V

c.971G>T

Surrounding Variants

1 paper

NM_002691.4

p.G324D

c.971G>A

1 paper

NM_002691.4

p.G324A

c.971G>C

1 paper

NM_002691.4

p.G324C

c.970G>T

1 paper

NM_002691.4

p.G324Splc

c.970+2T>C

1 paper

NM_002691.4

p.R322R

c.966C>T

4 papers

NM_002691.4

p.R322H

c.965G>A

1 paper

NM_002691.4

p.G321V

c.962G>T

19 papers

NM_002691.4

p.G321S

c.961G>A

1 paper

NM_002691.4

p.C319C

c.957C>T

6 papers

NM_002691.4

p.C319Y

c.956G>A

2 papers

NM_002691.4

p.C319R

c.955T>C

3 papers

NM_002691.4

p.C319G

c.955T>G