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.P115T

c.343C>A

Surrounding Variants

2 papers

NM_002691.4

p.P115A

c.343C>G

1 paper

NM_002691.4

p.P115S

c.343C>T

1 paper

NM_002691.4

p.P115H

c.344C>A

1 paper

NM_002691.4

p.P115R

c.344C>G

1 paper

NM_002691.4

p.P115L

c.344C>T

3 papers

NM_002691.4

p.P116delFs

c.347delC

2 papers

NM_002691.4

p.G114E

c.341G>A

1 paper

NM_002691.4

p.G114V

c.341G>T

1 paper

NM_002691.4

p.P116T

c.346C>A

3 papers

NM_002691.4

p.P116fs

c.346_347fs

1 paper

NM_002691.4

p.P116S

c.346C>T

6 papers

NM_002691.4

p.P116fs

c.346_347fs