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.G324Splc

c.971-5C>T

Surrounding Variants

1 paper

NM_002691.4

p.G324Splc

c.971-4G>A

1 paper

NM_002691.4

p.G324D

c.971G>A

2 papers

NM_002691.4

p.I325V

c.973A>G

1 paper

NM_002691.4

p.I325M

c.975C>G

2 papers

NM_002691.4

p.P327R

c.980C>G

23 papers

NM_002691.4

p.P327L

c.980C>T

1 paper

NM_002691.4

p.P329S

c.985C>T

1 paper

NM_002691.4

p.E330_R331del1

c.989_991delAGC

1 paper

NM_002691.4

p.R331W

c.991C>T

2 papers

NM_002691.4

p.R331Q

c.992G>A

1 paper

NM_002691.4

p.P333T

c.997C>A

1 paper

NM_002691.4

p.P333R

c.998C>G