Varaico: Literature-Extracted Genetic Variants

Gene:G2E3
Variant:p.D196delFs

G2E3

35 papers

Pfam Domains

zf-HC5HC2Haa 41–128UCSCPHD-like zinc-binding domain
PHD_G2E3aa 227–286UCSCG2E3-like, PHD zinc finger domain
HECTaa 408–696UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

G2/M-phase specific E3 ubiquitin protein ligase

HGNC Previous Symbol

KIAA1333

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017769.5
p.D196delFs
c.588delC
Surrounding Variants
1 paper
NM_017769.5
p.D250H
c.748G>C
1 paper
NM_017769.5
p.D173del1
c.517_518delGAC
1 paper
NM_017769.5
p.W169insFs
c.506dupG
1 paper
NM_017769.5
p.I154insFs
c.460dupA
1 paper
NM_017769.5
p.E140*
c.418G>T
1 paper
NM_017769.5
p.R286insFs
c.858dupG
1 paper
NM_017769.5
p.G293Splc
c.878-1G>A
1 paper
NM_017769.5
p.G293Splc
c.878-1G>T
1 paper
NM_017769.5
p.T312delFs
c.934delA
1 paper
NM_017769.5
p.T312A
c.934A>G
1 paper
NM_017769.5
p.P321T
c.961C>A
1 paper
NM_017769.5
p.R325insFs
c.974dupG
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