Varaico: Literature-Extracted Genetic Variants

Gene:NEIL1
Variant:p.I47V

NEIL1

157 papers

RefSeq Summary

This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by remo...

Pfam Domains

Fapy_DNA_glycoaa 1–123UCSCFormamidopyrimidine-DNA glycosylase N-terminal domain
Fapy_DNA_glycoaa 1–123UCSCFormamidopyrimidine-DNA glycosylase N-terminal domain
Neil1-DNA_bindaa 252–290UCSCEndonuclease VIII-like 1, DNA bind
Neil1-DNA_bindaa 252–290UCSCEndonuclease VIII-like 1, DNA bind

Gene Aliases

HGNC Name

nei like DNA glycosylase 1

HGNC Alias Symbols

FLJ22402; hFPG1; NEI1; FPG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024608.4
p.I47V
c.139A>G
Surrounding Variants
1 paper
NM_024608.4
p.I47fs
c.139_140fs
1 paper
NM_024608.4
p.I47M
c.141C>G
2 papers
NM_024608.4
p.R46insFs
c.138dupC
1 paper
NM_024608.4
p.R46fs
c.136_137fs
1 paper
NM_024608.4
p.A49S
c.145G>T
1 paper
NM_024608.4
p.A49G
c.146C>G
1 paper
NM_024608.4
p.A49V
c.146C>T
1 paper
NM_024608.4
p.S50L
c.149C>T
1 paper
NM_024608.4
p.A51D
c.152C>A
6 papers
NM_024608.4
p.A51V
c.152C>T
1 paper
NM_024608.4
p.G53G
c.159C>T
1 paper
NM_024608.4
p.V38M
c.112G>A
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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."