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.P162_M163insFs

c.486_487insG

Surrounding Variants

1 paper

NM_001625.4

p.P162P

c.486C>T

1 paper

NM_001625.4

p.E161K

c.481G>A

3 papers

NM_001625.4

p.D165G

c.494A>G

1 paper

NM_001625.4

p.D166_I167ins4

c.496_500ins12

1 paper

NM_001625.4

p.P159insFs

c.476_477ins5

1 paper

NM_001625.4

p.P158delFs

c.473delG

1 paper

NM_001625.4

p.D166D

c.498C>T

5 papers

NM_001625.4

p.D166_I167Splc

c.498+1G>A

2 papers

NM_001625.4

p.P158fs

c.472_473fs

1 paper

NM_001625.4

p.N157S

c.470A>G

1 paper

NM_001625.4

p.E155D

c.465G>T

1 paper

NM_001625.4

p.E155K

c.463G>A