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

1 paper

NM_002528.7

p.C24S

c.71G>C

Surrounding Variants

1 paper

NM_002528.7

p.C24Y

c.71G>A

1 paper

NM_002528.7

p.R25K

c.74G>A

1 paper

NM_002528.7

p.R22W

c.64C>T

1 paper

NM_002528.7

p.P21S

c.61C>T

1 paper

NM_002528.7

p.P28L

c.83C>T

1 paper

NM_002528.7

p.G29E

c.86G>A

1 paper

NM_002528.7

p.G29G

c.87G>T

2 papers

NM_002528.7

p.R22_P28delFs

c.64_83del20

1 paper

NM_002528.7

p.G16G

c.48A>G

1 paper

NM_002528.7

p.R33I

c.98G>T

6 papers

NM_002528.7

p.R33K

c.98G>A

1 paper

NM_002528.7

p.R13G

c.37C>G