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

2 papers

NM_001625.4

p.I167ins4

c.500_501ins12

Surrounding Variants

4 papers

NM_001625.4

p.I167insFs

c.500_501ins5

1 paper

NM_001625.4

p.I167ins3

c.499_500ins9

2 papers

NM_001625.4

p.I167T

c.500T>C

1 paper

NM_001625.4

p.I167fs

c.499_500fs

2 papers

NM_001625.4

p.I167fs

c.499_500fs

1 paper

NM_001625.4

p.T168T

c.504C>T

2 papers

NM_001625.4

p.P171L

c.512C>T

1 paper

NM_001625.4

p.P171H

c.512C>A

2 papers

NM_001625.4

p.I173I

c.519C>T

5 papers

NM_001625.4

p.R175P

c.524G>C

NM_001319142.3

p.R133P

c.398G>C

5 papers

NM_001625.4

p.R175Q

c.524G>A

1 paper

NM_001625.4

p.R175delFs

c.523delG