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_001318194.2

p.L18V

c.52C>G

Surrounding Variants

3 papers

NM_002528.7

p.S127_L128insFs

c.380_383dup4

1 paper

NM_002528.7

p.M129V

c.385A>G

1 paper

NM_002528.7

p.L125insFs

c.374dupT

1 paper

NM_002528.7

p.L125delFs

c.374delA

2 papers

NM_002528.7

p.L130L

c.390C>G

3 papers

NM_002528.7

p.L130L

c.390C>A

2 papers

NM_002528.7

p.L125L

c.373C>T

4 papers

NM_002528.7

p.Y122*

c.366C>G

4 papers

NM_002528.7

p.Y122*

c.366C>A

1 paper

NM_002528.7

p.V119_R120insFs

c.356_359dup4

1 paper

NM_002528.7

p.Q137*

c.409C>T

1 paper

NM_002528.7

p.T139M

c.416C>T