Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.S149A

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
8 papers
NM_005754.3
p.S149A
c.445T>G
Surrounding Variants
1 paper
NM_005754.3
p.E151_E152delFs
c.453_454delAG
1 paper
NM_005754.3
p.E158K
c.472G>A
1 paper
NM_005754.3
p.S180Splc
c.539+1G>A
1 paper
NM_005754.3
p.E148Splc
c.443-195C>A
1 paper
NM_005754.3
p.F141V
c.421T>G
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.E136G
c.407A>G
1 paper
NM_005754.3
p.Y133F
c.398A>T
1 paper
NM_005754.3
p.R132T
c.395G>C
1 paper
NM_005754.3
p.R132I
c.395G>T
1 paper
NM_005754.3
p.N128Y
c.382A>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."