Varaico: Literature-Extracted Genetic Variants

Gene:ENDOG
Variant:p.L43Q

ENDOG

51 papers

RefSeq Summary

The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This pr...

Pfam Domains

Endonuclease_NSaa 60–285UCSCDNA/RNA non-specific endonuclease

Gene Aliases

HGNC Name

endonuclease G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004435.2
p.L43Q
c.128T>A
Surrounding Variants
1 paper
NM_004435.2
p.L43_A46del0
c.129_137del9
1 paper
NM_004435.2
p.L43_A46del4
c.127_137del12
1 paper
NM_004435.2
p.L37_V45Fs
c.111_134delinsGFs
1 paper
NM_004435.2
p.P55R
c.164C>G
1 paper
NM_004435.2
p.E21fs
c.61_62fs
1 paper
NM_004435.2
p.E21delFs
c.61delG
1 paper
NM_004435.2
p.V20D
c.59T>A
1 paper
NM_004435.2
p.G15_L16delFs
c.43_46del4
1 paper
NM_004435.2
p.Q74*
c.220C>T
5 papers
NM_004435.2
p.S12L
c.35C>T
1 paper
NM_004435.2
p.R78G
c.232C>G
1 paper
NM_004435.2
p.G7D
c.20G>A
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