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.R103Q

c.308G>A

Surrounding Variants

5 papers

NM_001625.4

p.R103W

c.307C>T

2 papers

NM_001625.4

p.T104_V105insFs

c.312_313ins4

1 paper

NM_001625.4

p.V105A

c.314T>C

2 papers

NM_001625.4

p.G100D

c.299G>A

1 paper

NM_001625.4

p.M110_L111Splc

c.330+5G>A

1 paper

NM_001625.4

p.C92*

c.276C>A

1 paper

NM_001625.4

p.E88insFs

c.263_264ins4

1 paper

NM_001625.4

p.M110_L111Splc

c.331-96A>G

1 paper

NM_001625.4

p.D76_V80delFs

c.228_238del11

2 papers

NM_001625.4

p.E77K

c.229G>A

2 papers

NM_001625.4

p.S75I

c.224G>T

1 paper

NM_001625.4

p.V74insFs

c.221_222insA