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.A18A

c.54C>T

Surrounding Variants

2 papers

NM_001625.4

p.R17G

c.49C>G

1 paper

NM_001625.4

p.G15del1

c.43_44delGCC

1 paper

NM_001625.4

p.L21L

c.63G>T

2 papers

NM_001625.4

p.G15S

c.43G>A

1 paper

NM_001625.4

p.K14insFs

c.41_42ins4

1 paper

NM_001625.4

p.P24fs

c.70_71fs

6 papers

NM_001625.4

p.G25R

c.73G>C

6 papers

NM_001625.4

p.G25R

c.73G>A

1 paper

NM_001625.4

p.P24delFs

c.72delG

1 paper

NM_001625.4

p.G25A

c.74G>C

1 paper

NM_001625.4

p.G27R

c.79G>C

2 papers

NM_001625.4

p.K28E

c.82A>G