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.S33A

c.97T>G

Surrounding Variants

1 paper

NM_001080449.3

p.F34S

c.101T>C

1 paper

NM_001080449.3

p.K29R

c.86A>G

1 paper

NM_001080449.3

p.Q27E

c.79C>G

1 paper

NM_001080449.3

p.G42E

c.125G>A

1 paper

NM_001080449.3

p.R46P

c.137G>C

2 papers

NM_001080449.3

p.L48P

c.143T>C

1 paper

NM_001080449.3

p.N57H

c.169A>C

1 paper

NM_001080449.3

p.E59D

c.177G>T

1 paper

NM_001080449.3

p.E59D

c.177G>C

1 paper

NM_001080449.3

p.C62*

c.186T>A

1 paper

NM_001080449.3

p.E63K

c.187G>A

1 paper

NM_001080449.3

p.E63A

c.188A>C