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

8 papers

NM_001625.4

p.I223T

c.668T>C

Surrounding Variants

1 paper

NM_001625.4

p.A221_S222insA

c.661_665ins3

1 paper

NM_001625.4

p.A221T

c.661G>A

1 paper

NM_001625.4

p.V219del1

c.655_656delCAC

1 paper

NM_001625.4

p.V218_V219del1

c.654_656delACG

1 paper

NM_001625.4

p.V219M

c.655G>A

1 paper

NM_001625.4

p.K229Q

c.685A>C

5 papers

NM_001625.4

p.P216P

c.648C>T

1 paper

NM_001319139.3

p.T167insFs

c.500_501ins5

1 paper

NM_001625.4

p.Q214H

c.642G>C

1 paper

NM_001625.4

p.K233*

c.697A>T

1 paper

NM_001625.4

p.S213fs

c.637_638fs

2 papers

NM_001625.4

p.D211N

c.631G>A