Varaico: Literature-Extracted Genetic Variants

Gene:NEIL1
Variant:p.R145Splc

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
8 papers
NM_024608.4
p.R145Splc
c.434+2T>C
NM_001256552.1
p.R231Splc
c.692+2T>C
Surrounding Variants
11 papers
NM_024608.4
p.C136R
c.406T>C
1 paper
NM_024608.4
p.A111fs
c.331_332fs
2 papers
NM_024608.4
p.L110_A111insFs
c.330_331ins4
1 paper
NM_024608.4
p.R109_L110insFs
c.327_328ins4
1 paper
NM_024608.4
p.R109W
c.325C>T
1 paper
NM_024608.4
p.P108L
c.323C>T
1 paper
NM_024608.4
p.P105L
c.314C>T
2 papers
NM_024608.4
p.P105insFs
c.314dupC
1 paper
NM_024608.4
p.T103A
c.307A>G
4 papers
NM_024608.4
p.R95G
c.283C>G
1 paper
NM_024608.4
p.R90C
c.268C>T
26 papers
NM_024608.4
p.G83D
c.248G>A
NM_001256552.1
p.G169D
c.506G>A
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