Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.F380L

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
3 papers
NM_005754.3
p.F380L
c.1138T>C
Surrounding Variants
3 papers
NM_005754.3
p.F380L
c.1140T>A
3 papers
NM_005754.3
p.F380L
c.1140T>G
1 paper
NM_005754.3
p.G381D
c.1142G>A
3 papers
NM_005754.3
p.F382L
c.1144T>C
3 papers
NM_005754.3
p.F382L
c.1146T>A
1 paper
NM_005754.3
p.L377*
c.1130T>A
3 papers
NM_005754.3
p.F382L
c.1146T>G
1 paper
NM_005754.3
p.L377*
c.1130T>G
1 paper
NM_005754.3
p.V383I
c.1147G>A
1 paper
NM_005754.3
p.K376Q
c.1126A>C
1 paper
NM_005754.3
p.S388F
c.1163C>T
1 paper
NM_005754.3
p.I371L
c.1111A>C
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