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

3 papers

NM_002691.4

p.R682Q

c.2045G>A

Surrounding Variants

2 papers

NM_002691.4

p.R682W

c.2044C>T

1 paper

NM_002691.4

p.R683C

c.2047C>T

5 papers

NM_002691.4

p.R683H

c.2048G>A

1 paper

NM_002691.4

p.R683_Q684ins1

c.2049_2050insAGT

1 paper

NM_002691.4

p.Q684*

c.2050C>T

2 papers

NM_002691.4

p.P680L

c.2039C>T

19 papers

NM_002691.4

p.Q684H

c.2052G>C

19 papers

NM_002691.4

p.Q684H

c.2052G>T

1 paper

NM_002691.4

p.L686L

c.2056C>T

1 paper

NM_002691.4

p.G688_R689insFs

c.2064_2067dup4

27 papers

NM_002691.4

p.R689W

c.2065C>T

3 papers

NM_002691.4

p.R689Q

c.2066G>A