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.E18A

c.53A>C

Surrounding Variants

1 paper

NM_001080449.3

p.A19P

c.55G>C

1 paper

NM_001080449.3

p.A19V

c.56C>T

1 paper

NM_001080449.3

p.A19E

c.56C>A

1 paper

NM_001080449.3

p.P22A

c.64C>G

1 paper

NM_001080449.3

p.P22Q

c.65C>A

2 papers

NM_001080449.3

p.A23T

c.67G>A

1 paper

NM_001080449.3

p.A23V

c.68C>T

1 paper

NM_001080449.3

p.E12D

c.36G>T

1 paper

NM_001080449.3

p.E12D

c.36G>C

1 paper

NM_001080449.3

p.E24D

c.72G>T

1 paper

NM_001080449.3

p.E24D

c.72G>C

1 paper

NM_001080449.3

p.E24delFs

c.72delC