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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLD4

Variant:p.Q37*

POLD4

172 papers

RefSeq Summary

This gene encodes the smallest 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 and repair...

Pfam Domains

DNA_pol_delta_4aa 27–97UCSCDNA polymerase delta, subunit 4

Gene Aliases

HGNC Name

DNA polymerase delta 4, accessory subunit

HGNC Alias Symbols

p12; POLDS

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:67353066 G>A

NM_021173.5

p.Q37*

c.109C>T

DNA_pol_delta_4

Exome: 0.0% (AC=0, hom=0)Genome: n/a35 overlapping SVs

Surrounding Variants

3 papers

chr11:67353068 G>A

NM_021173.5

p.P36L

c.107C>T

DNA_pol_delta_4

exact variant not in gnomAD35 overlapping SVs

1 paper

chr11:67353062 G>T

NM_021173.5

p.P38H

c.113C>A

DNA_pol_delta_4

Exome: 0.0% (AC=0, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr11:67353059 C>A

NM_021173.5

p.R39L

c.116G>T

DNA_pol_delta_4

Exome: 0.0% (AC=593, hom=2)Genome: 0.0% (AC=65, hom=0)35 overlapping SVs

2 papers

chr11:67353059 C>G

NM_021173.5

p.R39P

c.116G>C

DNA_pol_delta_4

Exome: 1.2% (AC=16686, hom=2234)Genome: 2.0% (AC=3035, hom=349)35 overlapping SVs

1 paper

chr11:67353054 C>T

NM_021173.5

p.E41K

c.121G>A

DNA_pol_delta_4

Exome: 0.0% (AC=102, hom=0)Genome: 0.0% (AC=15, hom=0)35 overlapping SVs

1 paper

chr11:67353051 C>G

NM_021173.5

p.E42Q

c.124G>C

DNA_pol_delta_4

exact variant not in gnomAD35 overlapping SVs

2 papers

chr11:67353049 C>T

NM_021173.5

p.E42E

c.126G>A

DNA_pol_delta_4

Exome: 0.0% (AC=2, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr11:67353048 C>G

NM_021173.5

p.E43Q

c.127G>C

DNA_pol_delta_4

exact variant not in gnomAD35 overlapping SVs

1 paper

chr11:67353042 C>A

NM_021173.5

p.E45*

c.133G>T

DNA_pol_delta_4

Exome: 0.0% (AC=0, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr11:67353034 C>A

NM_021173.5

p.E47D

c.141G>T

DNA_pol_delta_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr11:67353034 C>G

NM_021173.5

p.E47D

c.141G>C

DNA_pol_delta_4

Exome: 0.0% (AC=0, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr11:67353025 C>G

NM_021173.5

p.R50S

c.150G>C

DNA_pol_delta_4

exact variant not in gnomAD35 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."