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

3 papers

NM_002528.7

p.Q183*

c.547C>T

Surrounding Variants

2 papers

NM_002528.7

p.A186T

c.556G>A

2 papers

NM_002528.7

p.K179R

c.536A>G

1 paper

NM_002528.7

p.Q189delFs

c.566delT

5 papers

NM_002528.7

p.R175_S176Splc

c.526-1G>A

1 paper

NM_002528.7

p.L188_Q189del2

c.562_566del6

1 paper

NM_002528.7

p.Y192*

c.576C>G

1 paper

NM_002528.7

p.Y192*

c.576C>A

1 paper

NM_002528.7

p.G193S

c.577G>A

1 paper

NM_002528.7

p.G194R

c.580G>A

2 papers

NM_002528.7

p.A201T

c.601G>A

2 papers

NM_002528.7

p.E202*

c.604G>T

1 paper

NM_002528.7

p.P197_A205Fs

c.591_614delinsTAFs