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

4 papers

NM_002691.4

p.A692V

c.2075C>T

Surrounding Variants

1 paper

NM_002691.4

p.L691V

c.2071C>G

1 paper

NM_002691.4

p.Q690R

c.2069A>G

1 paper

NM_002691.4

p.V695M

c.2083G>A

3 papers

NM_002691.4

p.R689Q

c.2066G>A

27 papers

NM_002691.4

p.R689W

c.2065C>T

1 paper

NM_002691.4

p.S696R

c.2086A>C

1 paper

NM_002691.4

p.S696delFs

c.2087delG

1 paper

NM_002691.4

p.S696fs

c.2086_2087fs

1 paper

NM_002691.4

p.S696N

c.2087G>A

1 paper

NM_002691.4

p.S696I

c.2087G>T

1 paper

NM_002691.4

p.S696R

c.2088C>A

1 paper

NM_002691.4

p.S696R

c.2088C>G