Varaico: Literature-Extracted Genetic Variants

Gene:POLB
Variant:p.E295K

POLB

394 papers

RefSeq Summary

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cyt...

Pfam Domains

HHH_8aa 11–82UCSCHelix-hairpin-helix domain
DNA_pol_lambd_faa 98–147UCSCFingers domain of DNA polymerase lambda
DNA_pol_B_palmaa 149–262UCSCDNA polymerase beta palm
DNA_pol_B_thumbaa 268–334UCSCDNA polymerase beta thumb

Gene Aliases

HGNC Name

DNA polymerase beta

HGNC Previous Names

polymerase (DNA directed), beta; polymerase (DNA) beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
41 papers
NM_002690.3
p.E295K
c.883G>A
Surrounding Variants
5 papers
NM_002690.3
p.E295A
c.884A>C
1 paper
NM_002690.3
p.N294D
c.880A>G
1 paper
NM_002690.3
p.Y296D
c.886T>G
1 paper
NM_002690.3
p.T297I
c.890C>T
1 paper
NM_002690.3
p.T292I
c.875C>T
4 papers
NM_002690.3
p.T292A
c.874A>G
1 paper
NM_002690.3
p.F291L
c.873C>A
1 paper
NM_002690.3
p.F291L
c.873C>G
4 papers
NM_002690.3
p.I298T
c.893T>C
1 paper
NM_002690.3
p.R299S
c.895C>A
1 paper
NM_002690.3
p.R299C
c.895C>T
1 paper
NM_002690.3
p.F291L
c.871T>C
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