Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.R132T

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.R132T
c.395G>C
Surrounding Variants
1 paper
NM_005754.3
p.R132I
c.395G>T
1 paper
NM_005754.3
p.Y133F
c.398A>T
1 paper
NM_005754.3
p.E136G
c.407A>G
1 paper
NM_005754.3
p.N128Y
c.382A>T
1 paper
NM_005754.3
p.E136D
c.408G>C
1 paper
NM_005754.3
p.E136D
c.408G>T
1 paper
NM_005754.3
p.V126I
c.376G>A
2 papers
NM_005754.3
p.Y125C
c.374A>G
1 paper
NM_005754.3
p.F124L
c.372C>A
1 paper
NM_005754.3
p.F124L
c.372C>G
1 paper
NM_005754.3
p.F124L
c.370T>C
1 paper
NM_005754.3
p.F141V
c.421T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."