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.R780W

c.2338C>T

Surrounding Variants

5 papers

NM_001080449.3

p.S779fs

c.2335_2336fs

1 paper

NM_001080449.3

p.S779insFs

c.2335dupT

3 papers

NM_001080449.3

p.S779delFs

c.2335delA

2 papers

NM_001080449.3

p.F782fs

c.2344_2345fs

2 papers

NM_001080449.3

p.F782delFs

c.2346delA

1 paper

NM_001080449.3

p.L776P

c.2327T>C

1 paper

NM_001080449.3

p.L776F

c.2326C>T

1 paper

NM_001080449.3

p.P775S

c.2323C>T

1 paper

NM_001080449.3

p.G774V

c.2321G>T

1 paper

NM_001080449.3

p.G774A

c.2321G>C

1 paper

NM_001080449.3

p.G786W

c.2356G>T

1 paper

NM_001080449.3

p.G774S

c.2320G>A