Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.G269V

G3BP1

160 papers

RefSeq Summary

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzym...

Pfam Domains

NTF2aa 11–133UCSCNuclear transport factor 2 (NTF2) domain
RRM_1aa 342–406UCSCRNA recognition motif

Gene Aliases

HGNC Name

G3BP stress granule assembly factor 1

HGNC Alias Symbol

HDH-VIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005754.3
p.G269V
c.806G>T
Surrounding Variants
1 paper
NM_005754.3
p.P271S
c.811C>T
1 paper
NM_005754.3
p.S253Y
c.758C>A
1 paper
NM_005754.3
p.W251delins
c.752delinsGCCA
1 paper
NM_005754.3
p.P288A
c.862C>G
1 paper
NM_005754.3
p.I292T
c.875T>C
1 paper
NM_005754.3
p.P293S
c.877C>T
1 paper
NM_005754.3
p.Q298*
c.892C>T
1 paper
NM_005754.3
p.Q298R
c.893A>G
1 paper
NM_005754.3
p.R307*
c.919C>T
1 paper
NM_005754.3
p.R320C
c.958C>T
1 paper
NM_005754.3
p.D327G
c.980A>G
1 paper
NM_005754.3
p.G345C
c.1033G>T
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