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

6 papers

NM_001625.4

p.H191D

c.571C>G

Surrounding Variants

3 papers

NM_001625.4

p.Q193L

c.578A>T

1 paper

NM_001625.4

p.L187R

c.560T>G

5 papers

NM_001625.4

p.T194T

c.582C>T

2 papers

NM_001625.4

p.R186R

c.558C>T

3 papers

NM_001625.4

p.R186C

c.556C>T

1 paper

NM_001625.4

p.P196S

c.586C>T

1 paper

NM_001625.4

p.L183*

c.548T>A

7 papers

NM_001625.4

p.A182D

c.545C>A

8 papers

NM_001625.4

p.K181N

c.543G>T

8 papers

NM_001625.4

p.K181N

c.543G>C

2 papers

NM_001625.4

p.Y200Y

c.600C>T

12 papers

NM_001319140.2

p.Y153F

c.458A>T

NM_001625.4

p.Y201F

c.602A>T