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.Q790*

c.2368C>T

Surrounding Variants

1 paper

NM_001080449.3

p.Q789H

c.2367G>T

1 paper

NM_001080449.3

p.Q789H

c.2367G>C

1 paper

NM_001080449.3

p.P793S

c.2377C>T

1 paper

NM_001080449.3

p.G786W

c.2356G>T

2 papers

NM_001080449.3

p.F782delFs

c.2346delA

1 paper

NM_001080449.3

p.N797I

c.2390A>T

1 paper

NM_001080449.3

p.N797delFs

c.2390delT

2 papers

NM_001080449.3

p.F782fs

c.2344_2345fs

1 paper

NM_001080449.3

p.R798L

c.2393G>T

1 paper

NM_001080449.3

p.R798insFs

c.2393_2394insCT

1 paper

NM_001080449.3

p.R798H

c.2393G>A

1 paper

NM_001080449.3

p.E799K

c.2395G>A