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.P24delFs

c.72delG

Surrounding Variants

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.G25A

c.74G>C

1 paper

NM_001625.4

p.P24fs

c.70_71fs

1 paper

NM_001625.4

p.G27R

c.79G>C

2 papers

NM_001625.4

p.K28E

c.82A>G

1 paper

NM_001625.4

p.L21L

c.63G>T

1 paper

NM_001625.4

p.K28R

c.83A>G

1 paper

NM_001625.4

p.G29fs

c.85_86fs

1 paper

NM_001625.4

p.G29G

c.87G>C

1 paper

NM_001625.4

p.T30A

c.88A>G

1 paper

NM_001625.4

p.T30T

c.90C>T