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.G631Splc

c.1892+11C>T

Surrounding Variants

1 paper

NM_002691.4

p.L630_G631del1

c.1890_1892delGGG

1 paper

NM_002691.4

p.L630V

c.1888C>G

1 paper

NM_002691.4

p.K629*

c.1885A>T

2 papers

NM_002691.4

p.Q628*

c.1882C>T

3 papers

NM_002691.4

p.R623Q

c.1868G>A

1 paper

NM_002691.4

p.R623L

c.1868G>T

2 papers

NM_002691.4

p.R623W

c.1867C>T

1 paper

NM_002691.4

p.T620M

c.1859C>T

1 paper

NM_002691.4

p.C617delFs

c.1850_1851delGT

1 paper

NM_002691.4

p.H614N

c.1840C>A

1 paper

NM_002691.4

p.A613S

c.1837G>T

1 paper

NM_002691.4

p.M612_N615del4

c.1834_1844del12