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.I519M

c.1557T>G

Surrounding Variants

3 papers

NM_001080449.3

p.I519V

c.1555A>G

1 paper

NM_001080449.3

p.E524D

c.1572A>T

1 paper

NM_001080449.3

p.E524D

c.1572A>C

2 papers

NM_001080449.3

p.A514T

c.1540G>A

1 paper

NM_001080449.3

p.R525_S526del2

c.1573_1577del6

1 paper

NM_001080449.3

p.L512V

c.1534C>G

4 papers

NM_001080449.3

p.A529S

c.1585G>T

1 paper

NM_001080449.3

p.L530F

c.1590G>T

1 paper

NM_001080449.3

p.L530F

c.1590G>C

1 paper

NM_001080449.3

p.R532I

c.1595G>T

1 paper

NM_001080449.3

p.A506V

c.1517C>T

1 paper

NM_001080449.3

p.G533E

c.1598G>A