Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP2
Variant:p.Q589K

GTPBP2

67 papers

RefSeq Summary

GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechani...

Pfam Domains

GTP_EFTUaa 172–410UCSCElongation factor Tu GTP binding domain

Gene Aliases

HGNC Name

GTP binding protein 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_019096.5
p.Q589K
c.1765C>A
Surrounding Variants
1 paper
NM_019096.5
p.A593T
c.1777G>A
1 paper
NM_019096.5
p.I582I
c.1746C>T
1 paper
NM_019096.5
p.A536del1
c.1606_1607delTGC
1 paper
NM_019096.5
p.Q524Q
c.1572G>A
1 paper
NM_019096.5
p.R521fs
c.1561_1562fs
2 papers
NM_019096.5
p.R521*
c.1561C>T
3 papers
NM_019096.5
p.R520*
c.1558C>T
1 paper
NM_019096.5
p.E509_I510delFs
c.1527_1528delTC
1 paper
NM_019096.5
p.E509fs
c.1525_1526fs
1 paper
NM_019096.5
p.E509*
c.1525G>T
1 paper
NM_019096.5
p.E507Q
c.1519G>C
1 paper
NM_019096.5
p.R470Q
c.1409G>A
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