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.Y152Y

c.456C>T

Surrounding Variants

3 papers

NM_001625.4

p.S151delFs

c.453delG

2 papers

NM_001625.4

p.Y152fs

c.454_455fs

2 papers

NM_001625.4

p.H153L

c.458A>T

1 paper

NM_001625.4

p.S151S

c.453C>T

1 paper

NM_001625.4

p.E154K

c.460G>A

1 paper

NM_001625.4

p.E155K

c.463G>A

1 paper

NM_001625.4

p.E155D

c.465G>T

1 paper

NM_001625.4

p.N157S

c.470A>G

2 papers

NM_001625.4

p.P158fs

c.472_473fs

1 paper

NM_001625.4

p.P158delFs

c.473delG

1 paper

NM_001625.4

p.P146P

c.438C>T

1 paper

NM_001625.4

p.P159insFs

c.476_477ins5