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.E9K

c.25G>A

Surrounding Variants

4 papers

NM_001625.4

p.E9*

c.25G>T

1 paper

NM_001625.4

p.E9A

c.26A>C

1 paper

NM_001625.4

p.A8V

c.23C>T

1 paper

NM_001625.4

p.K14insFs

c.41_42ins4

2 papers

NM_001625.4

p.G15S

c.43G>A

1 paper

NM_001625.4

p.G15del1

c.43_44delGCC

1 paper

NM_001625.4

p.M1insFs

c.2dupT

1 paper

NM_001625.4

p.M1I

c.3G>A

1 paper

NM_001625.4

p.M1T

c.2T>C

1 paper

NM_001625.4

p.M1K

c.2T>A

2 papers

NM_001625.4

p.R17G

c.49C>G

2 papers

NM_001625.4

p.M1L

c.1A>T