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

8 papers

NM_001080449.3

p.K654R

c.1961A>G

Surrounding Variants

5 papers

NM_001080449.3

p.K654E

c.1960A>G

6 papers

NM_001080449.3

p.T655A

c.1963A>G

1 paper

NM_001080449.3

p.T656A

c.1966A>G

1 paper

NM_001080449.3

p.T652R

c.1955C>G

1 paper

NM_001080449.3

p.T657M

c.1970C>T

2 papers

NM_001080449.3

p.T657T

c.1971G>A

1 paper

NM_001080449.3

p.P650H

c.1949C>A

1 paper

NM_001080449.3

p.M649_P650insFs

c.1947_1948insA

1 paper

NM_001080449.3

p.V647E

c.1940T>A

1 paper

NM_001080449.3

p.Y643C

c.1928A>G

1 paper

NM_001080449.3

p.Y643S

c.1928A>C

7 papers

NM_001080449.3

p.S640L

c.1919C>T