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.F603L

c.1809T>A

Surrounding Variants

1 paper

NM_001080449.3

p.F603L

c.1809T>G

4 papers

NM_001080449.3

p.F603S

c.1808T>C

1 paper

NM_001080449.3

p.F603L

c.1807T>C

1 paper

NM_001080449.3

p.E600G

c.1799A>G

1 paper

NM_001080449.3

p.R599P

c.1796G>C

1 paper

NM_001080449.3

p.R599H

c.1796G>A

1 paper

NM_001080449.3

p.S608R

c.1822A>C

2 papers

NM_001080449.3

p.R599C

c.1795C>T

1 paper

NM_001080449.3

p.S608R

c.1824T>G

1 paper

NM_001080449.3

p.S608R

c.1824T>A

1 paper

NM_001080449.3

p.F598V

c.1792T>G

1 paper

NM_001080449.3

p.S609C

c.1826C>G