Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1

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
1–12 of 113 variants
8 papers
NM_005754.3
p.S149A
c.445T>G
3 papers
NM_005754.3
p.F380L
c.1138T>C
3 papers
NM_005754.3
p.F380L
c.1140T>A
3 papers
NM_005754.3
p.F380L
c.1140T>G
3 papers
NM_005754.3
p.F382L
c.1144T>C
3 papers
NM_005754.3
p.F382L
c.1146T>A
3 papers
NM_005754.3
p.F382L
c.1146T>G
2 papers
NM_005754.3
p.V11A
c.32T>C
2 papers
NM_005754.3
p.Y125C
c.374A>G
2 papers
NM_005754.3
p.S232A
c.694T>G
2 papers
NM_005754.3
p.R460K
c.1379G>A
2 papers
NM_005754.3
p.R465W
c.1393C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."