Varaico: Literature-Extracted Genetic Variants

AK2

148 papers

RefSeq Summary

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of ade...

Pfam Domains

ADKaa 20–206UCSCAdenylate kinase

ADK_lidaa 142–177UCSCAdenylate kinase, active site lid

Gene Aliases

HGNC Name

adenylate kinase 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001625.4

p.R202fs

c.604_605fs

Surrounding Variants

12 papers

NM_001319140.2

p.Y153F

c.458A>T

NM_001625.4

p.Y201F

c.602A>T

2 papers

NM_001625.4

p.Y200Y

c.600C>T

2 papers

NM_001625.4

p.G205fs

c.613_614fs

10 papers

NM_001625.4

p.G205E

c.614G>A

1 paper

NM_001625.4

p.I206V

c.616A>G

1 paper

NM_001625.4

p.I206N

c.617T>A

1 paper

NM_001625.4

p.S208P

c.622T>C

1 paper

NM_001625.4

p.P196S

c.586C>T

5 papers

NM_001625.4

p.S208S

c.624C>T

4 papers

NM_001625.4

p.A209T

c.625G>A

5 papers

NM_001625.4

p.T194T

c.582C>T

5 papers

NM_001625.4

p.I210I

c.630C>T