Varaico: Literature-Extracted Genetic Variants

NTHL1

221 papers

RefSeq Summary

The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing...

Pfam Domains

HhH-GPDaa 126–264UCSCHhH-GPD superfamily base excision DNA repair protein

HHHaa 191–220UCSCHelix-hairpin-helix motif

Gene Aliases

HGNC Name

nth like DNA glycosylase 1

HGNC Alias Symbols

NTH1; OCTS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002528.7

p.Q279*

c.835C>T

Surrounding Variants

1 paper

NM_002528.7

p.Q279R

c.836A>G

1 paper

NM_001318194.2

p.F167L

c.499T>C

1 paper

NM_002528.7

p.G276G

c.828C>G

2 papers

NM_001318193.2

p.C225Y

c.674G>A

NM_002528.7

p.C282Y

c.845G>A

1 paper

NM_002528.7

p.L274S

c.821T>C

1 paper

NM_002528.7

p.L273delFs

c.819delG

16 papers

NM_002528.7

p.P287S

c.859C>T

1 paper

NM_002528.7

p.E269E

c.807G>A

1 paper

NM_002528.7

p.E269V

c.806A>T

1 paper

NM_002528.7

p.H268Y

c.802C>T

1 paper

NM_002528.7

p.E265Q

c.793G>C

9 papers

NM_002528.7

p.E265K

c.793G>A