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.G483S

c.1447G>A

Surrounding Variants

1 paper

NM_002691.4

p.Q485*

c.1453C>T

1 paper

NM_002691.4

p.Q485delFs

c.1454_1455delAG

1 paper

NM_002691.4

p.K486del1

c.1456_1457delAAG

1 paper

NM_002691.4

p.F481V

c.1441T>G

1 paper

NM_002691.4

p.H480P

c.1439A>C

1 paper

NM_002691.4

p.H480R

c.1439A>G

1 paper

NM_002691.4

p.K486T

c.1457A>C

4 papers

NM_002691.4

p.K486N

c.1458G>C

4 papers

NM_002691.4

p.K486N

c.1458G>T

1 paper

NM_002691.4

p.F479_H480del1

c.1437_1439delCCA

2 papers

NM_002691.4

p.S478R

c.1434C>A

2 papers

NM_002691.4

p.S478R

c.1434C>G