Varaico: Literature-Extracted Genetic Variants

DNA2

247 papers

RefSeq Summary

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in t...

Pfam Domains

Dna2aa 71–282UCSCDNA replication factor Dna2

Dna2_Riftaa 469–566UCSCDna2 Rift barrel domain

AAA_11aa 625–736UCSCAAA domain

AAA_11aa 720–798UCSCAAA domain

AAA_12aa 805–1018UCSCAAA domain

Gene Aliases

HGNC Name

DNA replication helicase/nuclease 2

HGNC Previous Symbol

DNA2L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080449.3

p.K636E

c.1906A>G

Surrounding Variants

2 papers

NM_001080449.3

p.V637I

c.1909G>A

1 paper

NM_001080449.3

p.K635E

c.1903A>G

1 paper

NM_001080449.3

p.A633S

c.1897G>T

1 paper

NM_001080449.3

p.Q632R

c.1895A>G

1 paper

NM_001080449.3

p.S640P

c.1918T>C

7 papers

NM_001080449.3

p.S640L

c.1919C>T

3 papers

NM_001080449.3

p.Q630*

c.1888C>T

1 paper

NM_001080449.3

p.Y643C

c.1928A>G

1 paper

NM_001080449.3

p.Y643S

c.1928A>C

1 paper

NM_001080449.3

p.L626F

c.1878G>T

1 paper

NM_001080449.3

p.L626F

c.1878G>C

1 paper

NM_001080449.3

p.G625V

c.1874G>T