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.V125insFs

c.374_375ins5

Surrounding Variants

1 paper

NM_001625.4

p.E127Q

c.379G>C

1 paper

NM_001625.4

p.S129N

c.386G>A

2 papers

NM_001625.4

p.L134fs

c.400_401fs

1 paper

NM_001625.4

p.M115V

c.343A>G

4 papers

NM_001625.4

p.R137*

c.409C>T

1 paper

NM_001625.4

p.R138K

c.413G>A

1 paper

NM_001625.4

p.D112A

c.335A>C

1 paper

NM_001625.4

p.I139V

c.415A>G

2 papers

NM_001625.4

p.M110_L111Splc

c.331-1G>A

1 paper

NM_001625.4

p.T140K

c.419C>A

1 paper

NM_001625.4

p.G141A

c.422G>C

1 paper

NM_001625.4

p.R142K

c.425G>A