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.D277H

c.829G>C

Surrounding Variants

1 paper

NM_001080449.3

p.I276M

c.828A>G

11 papers

NM_001080449.3

p.D277A

c.830A>C

1 paper

NM_001080449.3

p.K275R

c.824A>G

1 paper

NM_001080449.3

p.T279I

c.836C>T

1 paper

NM_001080449.3

p.T279K

c.836C>A

1 paper

NM_001080449.3

p.K273I

c.818A>T

1 paper

NM_001080449.3

p.R286*

c.856C>T

1 paper

NM_001080449.3

p.P268T

c.802C>A

1 paper

NM_001080449.3

p.S267F

c.800C>T

2 papers

NM_001080449.3

p.S267A

c.799T>G

1 paper

NM_001080449.3

p.S267P

c.799T>C

1 paper

NM_001080449.3

p.G287E

c.860G>A