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.E301A

c.902A>C

Surrounding Variants

1 paper

NM_002691.4

p.E301K

c.901G>A

2 papers

NM_002691.4

p.P300L

c.899C>T

1 paper

NM_002691.4

p.P303_Q305del0

c.907_915del9

1 paper

NM_002691.4

p.P300delins

c.898_899delinsTT

1 paper

NM_002691.4

p.P303S

c.907C>T

1 paper

NM_002691.4

p.P299R

c.896C>G

1 paper

NM_002691.4

p.P299delFs

c.895_896delCC

1 paper

NM_002691.4

p.W304S

c.911G>C

1 paper

NM_002691.4

p.W304L

c.911G>T

1 paper

NM_002691.4

p.H298Y

c.892C>T

1 paper

NM_002691.4

p.Q305E

c.913C>G

2 papers

NM_002691.4

p.S297C

c.889A>T