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

1–12 of 173 variants

29 papers

NM_002528.7

p.Q82*

c.244C>T

16 papers

NM_002528.7

p.P287S

c.859C>T

9 papers

NM_002528.7

p.E265K

c.793G>A

6 papers

NM_002528.7

p.R33K

c.98G>A

6 papers

NM_002528.7

p.E39Splc

c.115+1G>A

5 papers

NM_002528.7

p.R92C

c.274C>T

5 papers

NM_002528.7

p.R175_S176Splc

c.526-1G>A

5 papers

NM_002528.7

p.Q279*

c.835C>T

4 papers

NM_002528.7

p.P117delFs

c.350delG

4 papers

NM_002528.7

p.Y122*

c.366C>G

4 papers

NM_002528.7

p.Y122*

c.366C>A

4 papers

NM_002528.7

p.I168T

c.503T>C