Varaico: Literature-Extracted Genetic Variants

TOP1

320 papers

RefSeq Summary

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single stran...

Pfam Domains

Topoisom_I_Naa 215–429UCSCEukaryotic DNA topoisomerase I, DNA binding fragment

Topoisom_Iaa 432–665UCSCEukaryotic DNA topoisomerase I, catalytic core

Topo_C_assocaa 695–765UCSCC-terminal topoisomerase domain

Gene Aliases

HGNC Name

DNA topoisomerase I

HGNC Previous Name

topoisomerase (DNA) I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003286.4

p.D664N

c.1990G>A

Surrounding Variants

1 paper

NM_003286.4

p.D664A

c.1991A>C

1 paper

NM_003286.4

p.R663G

c.1987A>G

1 paper

NM_003286.4

p.A661G

c.1982C>G

1 paper

NM_003286.4

p.S667G

c.1999A>G

1 paper

NM_003286.4

p.K669R

c.2006A>G

2 papers

NM_003286.4

p.K669delFs

c.2007delG

1 paper

NM_003286.4

p.A672T

c.2014G>A

1 paper

NM_003286.4

p.A672S

c.2014G>T

7 papers

NM_003286.4

p.A653P

c.1957G>C

2 papers

NM_003286.4

p.M675I

c.2025G>A

2 papers

NM_003286.4

p.M675I

c.2025G>C

2 papers

NM_003286.4

p.M675I

c.2025G>T