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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOG

Variant:p.N221H

EXOG

25 papers

RefSeq Summary

This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to ...

Pfam Domains

Endonuclease_NSaa 58–287UCSCDNA/RNA non-specific endonuclease

Exog_Caa 302–350UCSCEndo/exonuclease (EXOG) C-terminal domain

Gene Aliases

HGNC Name

exo/endonuclease G

HGNC Previous Symbols

ENDOGL1; ENDOGL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:38523916 A>C

NM_005107.4

p.N221H

c.661A>C

Endonuclease_NS

exact variant not in gnomAD59 overlapping SVs

Surrounding Variants

1 paper

chr3:38523989 C>G

NM_005107.4

p.A245G

c.734C>G

Endonuclease_NS

exact variant not in gnomAD59 overlapping SVs

4 papers

chr3:38524085 G>T

NM_005107.4

p.G277V

c.830G>T

Endonuclease_NS

Exome: 1.0% (AC=15158, hom=106)Genome: 0.8% (AC=1154, hom=13)59 overlapping SVs

1 paper

chr3:38524139 C>G

NM_005107.4

p.S295C

c.884C>G

exact variant not in gnomAD59 overlapping SVs

1 paper

chr3:38524291 C>T

NM_005107.4

p.R346C

c.1036C>T

Exog_C

Exome: 0.2% (AC=2639, hom=8)Genome: 0.1% (AC=206, hom=0)59 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."