Varaico: Literature-Extracted Genetic Variants

Gene:POLE3
Variant:p.E129K

POLE3

94 papers

RefSeq Summary

POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexe...

Pfam Domains

CBFD_NFYB_HMFaa 8–73UCSCHistone-like transcription factor (CBF/NF-Y) and archaeal histone

Gene Aliases

HGNC Name

DNA polymerase epsilon 3, accessory subunit

HGNC Alias Symbols

CHRAC17; Ybl1; p17; CHARAC17; CHRAC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017443.5
p.E129K
c.385G>A
Surrounding Variants
1 paper
NM_017443.5
p.N127del1
c.379_380delATT
1 paper
NM_017443.5
p.E125V
c.374A>T
1 paper
NM_017443.5
p.E125G
c.374A>G
1 paper
NM_017443.5
p.E138Q
c.412G>C
1 paper
NM_017443.5
p.E138G
c.413A>G
1 paper
NM_017443.5
p.E138A
c.413A>C
1 paper
NM_017443.5
p.E141G
c.422A>G
1 paper
NM_017443.5
p.S116L
c.347C>T
1 paper
NM_017443.5
p.K113Q
c.337A>C
1 paper
NM_017443.5
p.K108K
c.324G>A
1 paper
NM_017443.5
p.K106R
c.317A>G
1 paper
NM_017443.5
p.G98S
c.292G>A
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