Varaico: Literature-Extracted Genetic Variants

Gene:NEIL1
Variant:p.G249R

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.G249R
c.745G>A
Surrounding Variants
1 paper
NM_024608.4
p.G249R
c.745G>C
1 paper
NM_024608.4
p.S248R
c.744C>A
1 paper
NM_024608.4
p.S248R
c.744C>G
1 paper
NM_024608.4
p.S248R
c.742A>C
1 paper
NM_001256552.1
p.S334G
c.1000A>G
1 paper
NM_024608.4
p.E250K
c.748G>A
7 papers
NM_024608.4
p.D252N
c.754G>A
8 papers
NM_024608.4
p.G245R
c.733G>A
8 papers
NM_024608.4
p.G245R
c.733G>C
1 paper
NM_024608.4
p.F253fs
c.757_758fs
1 paper
NM_024608.4
p.G245delFs
c.735delG
1 paper
NM_024608.4
p.Y244H
c.730T>C
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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."