Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R1146C

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
17 papers
NM_002693.3
p.R1146C
c.3436C>T
Surrounding Variants
1 paper
NM_002693.3
p.D1145insFs
c.3433_3434ins4
1 paper
NM_002693.3
p.D1145insFs
c.3434_3435ins4
1 paper
NM_002693.3
p.D1145N
c.3433G>A
1 paper
NM_002693.3
p.E1144D
c.3432G>T
1 paper
NM_002693.3
p.E1144D
c.3432G>C
2 papers
NM_002693.3
p.R1148C
c.3442C>T
1 paper
NM_002693.3
p.E1143D
c.3429G>T
1 paper
NM_002693.3
p.E1143D
c.3429G>C
1 paper
NM_002693.3
p.R1148H
c.3443G>A
162 papers
NM_002693.3
p.E1143G
c.3428A>G
1 paper
NM_002693.3
p.E1143Q
c.3427G>C
1 paper
NM_002693.3
p.A1149T
c.3445G>A
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