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

1–12 of 152 variants

11 papers

NM_001625.4

p.Y201F

c.602A>T

10 papers

NM_001625.4

p.G205E

c.614G>A

8 papers

NM_001625.4

p.K181N

c.543G>T

8 papers

NM_001625.4

p.K181N

c.543G>C

8 papers

NM_001625.4

p.I223T

c.668T>C

7 papers

NM_001625.4

p.A182D

c.545C>A

6 papers

NM_001625.4

p.G25R

c.73G>C

6 papers

NM_001625.4

p.G25R

c.73G>A

6 papers

NM_001625.4

p.H191D

c.571C>G

5 papers

NM_001625.4

p.R103W

c.307C>T

5 papers

NM_001625.4

p.D166_I167Splc

c.498+1G>A

5 papers

NM_001625.4

p.R175Q

c.524G>A