Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.R460K

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
2 papers
NM_005754.3
p.R460K
c.1379G>A
Surrounding Variants
2 papers
NM_005754.3
p.R465W
c.1393C>T
1 paper
NM_005754.3
p.*467*
c.1400G>A
1 paper
NM_005754.3
p.K453_P454del2
c.1357_1361del6
1 paper
NM_005754.3
p.R443K
c.1328G>A
1 paper
NM_005754.3
p.G432*
c.1294G>T
1 paper
NM_005754.3
p.R429W
c.1285C>T
1 paper
NM_005754.3
p.D425E
c.1275T>A
1 paper
NM_005754.3
p.V410V
c.1230C>T
1 paper
NM_005754.3
p.N409S
c.1226A>G
1 paper
NM_005754.3
p.Q392R
c.1175A>G
1 paper
NM_005754.3
p.Q392*
c.1174C>T
1 paper
NM_005754.3
p.S388F
c.1163C>T
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