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.G129E

c.386G>A

Surrounding Variants

2 papers

NM_002691.4

p.G129A

c.386G>C

1 paper

NM_002691.4

p.G129V

c.386G>T

2 papers

NM_002691.4

p.G129R

c.385G>A

2 papers

NM_002691.4

p.G129R

c.385G>C

2 papers

NM_002691.4

p.G129W

c.385G>T

1 paper

NM_002691.4

p.V130I

c.388G>A

1 paper

NM_002691.4

p.F128S

c.383T>C

1 paper

NM_002691.4

p.F128V

c.382T>G

1 paper

NM_002691.4

p.T131P

c.391A>C

1 paper

NM_002691.4

p.T131A

c.391A>G

1 paper

NM_002691.4

p.A127G

c.380C>G

1 paper

NM_002691.4

p.A127V

c.380C>T