Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.T222_P224delFs

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.T222_P224delFs
c.665_671del7
Surrounding Variants
1 paper
NM_005754.3
p.P224S
c.670C>T
1 paper
NM_005754.3
p.S230_S231del2
c.688_692del6
1 paper
NM_005754.3
p.S230_S231del1
c.690_692delTTC
1 paper
NM_005754.3
p.E213K
c.637G>A
2 papers
NM_005754.3
p.S232A
c.694T>G
1 paper
NM_005754.3
p.S208C
c.623C>G
1 paper
NM_005754.3
p.V207G
c.620T>G
1 paper
NM_005754.3
p.E188*
c.562G>T
1 paper
NM_005754.3
p.E185Q
c.553G>C
1 paper
NM_005754.3
p.S180Splc
c.540-9C>G
1 paper
NM_005754.3
p.S180Splc
c.539+1G>A
1 paper
NM_005754.3
p.E158K
c.472G>A
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