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.P234S

c.700C>T

Surrounding Variants

1 paper

NM_001080449.3

p.P234T

c.700C>A

1 paper

NM_001080449.3

p.D232_F233insFs

c.696_697insT

1 paper

NM_001080449.3

p.T231T

c.693T>A

1 paper

NM_001080449.3

p.S230L

c.689C>T

1 paper

NM_001080449.3

p.L238H

c.713T>A

2 papers

NM_001080449.3

p.K227E

c.679A>G

1 paper

NM_001080449.3

p.H226Q

c.678T>A

1 paper

NM_001080449.3

p.D223Y

c.667G>T

4 papers

NM_001080449.3

p.A221G

c.662C>G

1 paper

NM_001080449.3

p.W220*

c.660G>A

1 paper

NM_001080449.3

p.W220*

c.659G>A

1 paper

NM_001080449.3

p.C218F

c.653G>T