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.F148L

c.444C>G

Surrounding Variants

1 paper

NM_002691.4

p.F148L

c.444C>A

1 paper

NM_002691.4

p.Y149N

c.445T>A

1 paper

NM_002691.4

p.F148S

c.443T>C

1 paper

NM_002691.4

p.Y149H

c.445T>C

1 paper

NM_002691.4

p.Y149S

c.446A>C

1 paper

NM_002691.4

p.Y149C

c.446A>G

1 paper

NM_002691.4

p.Y149F

c.446A>T

1 paper

NM_002691.4

p.F148L

c.442T>C

1 paper

NM_002691.4

p.T150P

c.448A>C

1 paper

NM_002691.4

p.Y147C

c.440A>G

2 papers

NM_002691.4

p.T150S

c.448A>T

1 paper

NM_002691.4

p.T150N

c.449C>A