Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.E117_G118Splc

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.E117_G118Splc
c.351+11G>A
Surrounding Variants
1 paper
NM_005754.3
p.E117_G118Splc
c.351+1G>T
1 paper
NM_005754.3
p.E117_G118Splc
c.351+34A>G
1 paper
NM_005754.3
p.T111K
c.332C>A
1 paper
NM_005754.3
p.L105S
c.314T>C
1 paper
NM_005754.3
p.A104V
c.311C>T
1 paper
NM_005754.3
p.N102K
c.306C>G
1 paper
NM_005754.3
p.N102D
c.304A>G
1 paper
NM_005754.3
p.S99insFs
c.297dupT
1 paper
NM_005754.3
p.S99P
c.295T>C
1 paper
NM_005754.3
p.S99fs
c.295_296fs
1 paper
NM_005754.3
p.M95T
c.284T>C
1 paper
NM_005754.3
p.L86_V94delFs
c.256_281del26
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