Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN8
Variant:p.N68S

GEMIN8

18 papers

RefSeq Summary

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both...

Pfam Domains

GEMIN8aa 14–242UCSCGemini of Cajal bodies-associated protein 8

Gene Aliases

HGNC Name

gem nuclear organelle associated protein 8

HGNC Previous Symbol

FAM51A1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042479.2
p.N68S
c.203A>G
Surrounding Variants
1 paper
NM_001042479.2
p.A71A
c.213G>A
1 paper
NM_001042479.2
p.H80Y
c.238C>T
1 paper
NM_001042479.2
p.S90Y
c.269C>A
1 paper
NM_001042479.2
p.A31T
c.91G>A
1 paper
NM_001042479.2
p.I106I
c.318C>T
1 paper
NM_001042479.2
p.S7L
c.20C>T
1 paper
NM_001042479.2
p.R157*
c.469C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."