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.M760I

c.2280G>A

Surrounding Variants

1 paper

NM_002691.4

p.M760I

c.2280G>C

1 paper

NM_002691.4

p.M760I

c.2280G>T

1 paper

NM_002691.4

p.M760delFs

c.2278_2279delAT

1 paper

NM_002691.4

p.R762*

c.2284C>T

28 papers

NM_002691.4

p.V759I

c.2275G>A

2 papers

NM_002691.4

p.R762Q

c.2285G>A

1 paper

NM_002691.4

p.D757A

c.2270A>C

1 paper

NM_002691.4

p.D757G

c.2270A>G

4 papers

NM_002691.4

p.V765M

c.2293G>A

1 paper

NM_002691.4

p.D755V

c.2264A>T

1 paper

NM_002691.4

p.S766insFs

c.2297_2298insA

2 papers

NM_002691.4

p.G754R

c.2260G>C