Varaico: Literature-Extracted Genetic Variants

Gene:AK5
Variant:p.K535_T536ins1

AK5

74 papers

RefSeq Summary

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups am...

Pfam Domains

ADKaa 137–294UCSCAdenylate kinase
ADKaa 137–294UCSCAdenylate kinase
ADKaa 381–537UCSCAdenylate kinase
ADKaa 381–537UCSCAdenylate kinase

Gene Aliases

HGNC Name

adenylate kinase 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_174858.3
p.K535_T536ins1
c.1605_1606insATC
Surrounding Variants
1 paper
NM_174858.3
p.T534_K535ins1
c.1602_1603insATT
2 papers
NM_174858.3
p.T534_K535ins1
c.1602_1603insTAT
6 papers
NM_174858.3
p.T534ins1
c.1601_1602insTAT
1 paper
NM_174858.3
p.H539Y
c.1615C>T
1 paper
NM_174858.3
p.K540_I541Splc
c.1620+3G>A
1 paper
NM_174858.3
p.P527P
c.1581C>A
1 paper
NM_174858.3
p.A524fs
c.1570_1571fs
1 paper
NM_174858.3
p.A524_E533delFs
c.1571_1599del29
1 paper
NM_174858.3
p.S501R
c.1503C>A
1 paper
NM_174858.3
p.L497I
c.1489C>A
1 paper
NM_174858.3
p.S489S
c.1467G>A
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