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.H140Y

c.418C>T

Surrounding Variants

1 paper

NM_002691.4

p.H140R

c.419A>G

2 papers

NM_002691.4

p.C139C

c.417C>T

1 paper

NM_002691.4

p.H140Q

c.420C>A

1 paper

NM_002691.4

p.H140Q

c.420C>G

1 paper

NM_002691.4

p.H140H

c.420C>T

1 paper

NM_002691.4

p.C139Y

c.416G>A

1 paper

NM_002691.4

p.I141V

c.421A>G

1 paper

NM_002691.4

p.I141F

c.421A>T

1 paper

NM_002691.4

p.C138W

c.414C>G

1 paper

NM_002691.4

p.C138Y

c.413G>A

1 paper

NM_002691.4

p.C138S

c.413G>C

1 paper

NM_002691.4

p.C139_H140del2

c.415_419del6