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

1–12 of 428 variants

11 papers

NM_001080449.3

p.D277A

c.830A>C

8 papers

NM_001080449.3

p.K654R

c.1961A>G

7 papers

NM_001080449.3

p.S640L

c.1919C>T

6 papers

NM_001080449.3

p.T655A

c.1963A>G

5 papers

NM_001080449.3

p.K654E

c.1960A>G

5 papers

NM_001080449.3

p.S779fs

c.2335_2336fs

4 papers

NM_001080449.3

p.L25Splc

c.74+4A>C

4 papers

NM_001080449.3

p.A221G

c.662C>G

4 papers

NM_001080449.3

p.A529S

c.1585G>T

4 papers

NM_001080449.3

p.F603S

c.1808T>C

3 papers

NM_001080449.3

p.V67L

c.199G>C

3 papers

NM_001080449.3

p.R154C

c.460C>T