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

3 papers

NM_001080449.3

p.R154C

c.460C>T

Surrounding Variants

1 paper

NM_001080449.3

p.R154H

c.461G>A

1 paper

NM_001080449.3

p.P151T

c.451C>A

1 paper

NM_001080449.3

p.F166I

c.496T>A

2 papers

NM_001080449.3

p.A169A

c.507C>A

1 paper

NM_001080449.3

p.I170V

c.508A>G

1 paper

NM_001080449.3

p.N172Y

c.514A>T

1 paper

NM_001080449.3

p.N172I

c.515A>T

1 paper

NM_001080449.3

p.S173G

c.517A>G

1 paper

NM_001080449.3

p.E181K

c.541G>A

2 papers

NM_001080449.3

p.Q185E

c.553C>G

1 paper

NM_001080449.3

p.T186_I187del2

c.556_560del6

2 papers

NM_001080449.3

p.L193S

c.578T>C