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.R92C

c.274C>T

Surrounding Variants

1 paper

NM_002528.7

p.A93T

c.277G>A

1 paper

NM_002528.7

p.M94V

c.280A>G

1 paper

NM_002528.7

p.M94T

c.281T>C

1 paper

NM_002528.7

p.V89fs

c.265_266fs

1 paper

NM_002528.7

p.V89insFs

c.265dupG

1 paper

NM_002528.7

p.M94I

c.282G>T

1 paper

NM_002528.7

p.M94I

c.282G>C

1 paper

NM_002528.7

p.M94I

c.282G>A

1 paper

NM_002528.7

p.Q87*

c.259C>T

1 paper

NM_002528.7

p.K97*

c.289A>T

1 paper

NM_002528.7

p.K98E

c.292A>G

1 paper

NM_002528.7

p.W84delFs

c.250delA