Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN8
Variant:p.E195V

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
4 papers
NM_001042479.2
p.E195V
c.584A>T
Surrounding Variants
1 paper
NM_001042479.2
p.D177N
c.529G>A
1 paper
NM_001042479.2
p.A218T
c.652G>A
1 paper
NM_001042479.2
p.A218V
c.653C>T
2 papers
NM_001042479.2
p.V172M
c.514G>A
1 paper
NM_001042479.2
p.H226L
c.677A>T
1 paper
NM_001042479.2
p.H226R
c.677A>G
1 paper
NM_001042479.2
p.Q162H
c.486G>T
1 paper
NM_001042479.2
p.Q162H
c.486G>C
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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."