Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.E1225insFs

POLG

1,910 papers

RefSeq Summary

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA...

Pfam Domains

DNApol_Exoaa 121–414UCSCDNA mitochondrial polymerase exonuclease domain

Gene Aliases

HGNC Name

DNA polymerase gamma, catalytic subunit

HGNC Alias Symbols

POLG1; POLGA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002693.3
p.E1225insFs
c.3673_3674insG
Surrounding Variants
1 paper
NM_002693.3
p.E1225fs
c.3673_3674fs
1 paper
NM_002693.3
p.I1224T
c.3671T>C
2 papers
NM_002693.3
p.L1226H
c.3677T>A
1 paper
NM_002693.3
p.Q1222Q
c.3666G>A
8 papers
NM_002693.3
p.S1230F
c.3689C>T
1 paper
NM_002693.3
p.D1219G
c.3656A>G
12 papers
NM_002693.3
p.A1217V
c.3650C>T
2 papers
NM_002693.3
p.A1217P
c.3649G>C
1 paper
NM_002693.3
p.R1234*
c.3700C>T
1 paper
NM_002693.3
p.R1234P
c.3701G>C
2 papers
NM_002693.3
p.R1234Q
c.3701G>A
1 paper
NM_002693.3
p.E1216K
c.3646G>A
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