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.A509D

c.1526C>A

Surrounding Variants

1 paper

NM_002691.4

p.A509V

c.1526C>T

1 paper

NM_002691.4

p.V510V

c.1530G>A

2 papers

NM_002691.4

p.R507H

c.1520G>A

1 paper

NM_002691.4

p.R507L

c.1520G>T

26 papers

NM_002691.4

p.R507C

c.1519C>T

10 papers

NM_002691.4

p.R506H

c.1517G>A

1 paper

NM_002691.4

p.L513delFs

c.1539delG

1 paper

NM_002691.4

p.T504I

c.1511C>T

1 paper

NM_002691.4

p.T504_R506del0

c.1512_1517del6

1 paper

NM_002691.4

p.T504_R506Fs

c.1510_1517delinsCCAACAGCCAFs

1 paper

NM_002691.4

p.D515N

c.1543G>A

3 papers

NM_002691.4

p.D515G

c.1544A>G