Varaico: Literature-Extracted Genetic Variants

Gene:G3BP1
Variant:p.Y19H

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.Y19H
c.55T>C
Surrounding Variants
1 paper
NM_005754.3
p.T21T
c.63A>T
1 paper
NM_005754.3
p.R13R
c.39G>A
1 paper
NM_005754.3
p.A26V
c.77C>T
1 paper
NM_005754.3
p.A26A
c.78C>T
2 papers
NM_005754.3
p.V11A
c.32T>C
1 paper
NM_005754.3
p.L30L
c.88C>T
1 paper
NM_005754.3
p.R32Splc
c.95+1G>A
1 paper
NM_005754.3
p.M1I
c.3G>C
1 paper
NM_005754.3
p.M1insFs
c.3dupG
1 paper
NM_005754.3
p.M1insFs
c.1_2insT
1 paper
NM_005754.3
p.S38T
c.112T>A
1 paper
NM_005754.3
p.S38A
c.112T>G
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