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

2 papers

NM_002528.7

p.A71V

c.212C>T

Surrounding Variants

3 papers

NM_002528.7

p.A71insFs

c.211dupG

2 papers

NM_002528.7

p.A71fs

c.211_212fs

1 paper

NM_002528.7

p.G70A

c.209G>C

3 papers

NM_002528.7

p.G70R

c.208G>A

1 paper

NM_002528.7

p.K75Q

c.223A>C

1 paper

NM_002528.7

p.E66E

c.198G>A

1 paper

NM_002528.7

p.V76delFs

c.227delA

1 paper

NM_002528.7

p.S65T

c.194G>C

1 paper

NM_002528.7

p.S63delFs

c.188_189delCG

3 papers

NM_002528.7

p.W79insFs

c.235_236insG

2 papers

NM_002528.7

p.W79insFs

c.235dupT

1 paper

NM_002528.7

p.W79delFs

c.235_236delCA