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.L157L

c.469C>T

Surrounding Variants

1 paper

NM_002528.7

p.L157P

c.470T>C

1 paper

NM_002528.7

p.L157delFs

c.469_470delAG

3 papers

NM_002528.7

p.Q158*

c.472C>T

1 paper

NM_002528.7

p.D161H

c.481G>C

1 paper

NM_002528.7

p.V153M

c.457G>A

2 papers

NM_002528.7

p.A162delFs

c.484delC

1 paper

NM_002528.7

p.G150S

c.448G>A

1 paper

NM_002528.7

p.R145_R149del0

c.435_446del12

2 papers

NM_002528.7

p.A148A

c.444G>A

2 papers

NM_002528.7

p.A148V

c.443C>T

1 paper

NM_002528.7

p.A148G

c.443C>G

1 paper

NM_002528.7

p.L164_G165del2

c.490_494del6