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.R753C

c.2257C>T

Surrounding Variants

1 paper

NM_001080449.3

p.I750fs

c.2248_2249fs

1 paper

NM_001080449.3

p.I750delFs

c.2249delA

1 paper

NM_001080449.3

p.F756L

c.2266T>C

1 paper

NM_001080449.3

p.F756L

c.2268T>G

1 paper

NM_001080449.3

p.F756L

c.2268T>A

1 paper

NM_001080449.3

p.D757H

c.2269G>C

1 paper

NM_001080449.3

p.H748Y

c.2242C>T

1 paper

NM_001080449.3

p.M744V

c.2230A>G

1 paper

NM_001080449.3

p.C743S

c.2228G>C

1 paper

NM_001080449.3

p.C743S

c.2227T>A

1 paper

NM_001080449.3

p.S765A

c.2293T>G

1 paper

NM_001080449.3

p.T741P

c.2221A>C