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.E473K

c.1417G>A

Surrounding Variants

1 paper

NM_001080449.3

p.I479F

c.1435A>T

1 paper

NM_001080449.3

p.H487N

c.1459C>A

1 paper

NM_001080449.3

p.D493N

c.1477G>A

1 paper

NM_001080449.3

p.D493delFs

c.1477delC

1 paper

NM_001080449.3

p.Q501Q

c.1503A>G

1 paper

NM_001080449.3

p.C502F

c.1505G>T

1 paper

NM_001080449.3

p.A506V

c.1517C>T

1 paper

NM_001080449.3

p.L512V

c.1534C>G

2 papers

NM_001080449.3

p.A514T

c.1540G>A

3 papers

NM_001080449.3

p.I519V

c.1555A>G

1 paper

NM_001080449.3

p.I519M

c.1557T>G

1 paper

NM_001080449.3

p.E524D

c.1572A>T