Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.V41I

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.V41I
c.121G>A
Surrounding Variants
1 paper
NM_005754.3
p.Y40F
c.119A>T
1 paper
NM_005754.3
p.S38F
c.113C>T
1 paper
NM_005754.3
p.S38T
c.112T>A
1 paper
NM_005754.3
p.S38A
c.112T>G
1 paper
NM_005754.3
p.D53N
c.157G>A
1 paper
NM_005754.3
p.Y56D
c.166T>G
1 paper
NM_005754.3
p.V65V
c.195G>A
1 paper
NM_005754.3
p.Q68*
c.202C>T
1 paper
NM_005754.3
p.I77delFs
c.230_231delTT
1 paper
NM_005754.3
p.R78C
c.232C>T
1 paper
NM_005754.3
p.A82T
c.244G>A
1 paper
NM_005754.3
p.L86_V94delFs
c.256_281del26
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