Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN6
Variant:p.S153P

GEMIN6

20 papers

RefSeq Summary

GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other mem...

Pfam Domains

Gemin6aa 1–86UCSCGemin6 Sm-like domain
Gemin6_Caa 88–167UCSCGemin6 C-terminal domain

Gene Aliases

HGNC Name

gem nuclear organelle associated protein 6

HGNC Alias Symbol

FLJ23459

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024775.10
p.S153P
c.457T>C
Surrounding Variants
1 paper
NM_024775.10
p.D157N
c.469G>A
1 paper
NM_024775.10
p.G140D
c.419G>A
1 paper
NM_024775.10
p.*168delFs
c.502delT
1 paper
NM_024775.10
p.I135T
c.404T>C
1 paper
NM_024775.10
p.C91G
c.271T>G
1 paper
NM_024775.10
p.R77K
c.230G>A
1 paper
NM_024775.10
p.R77T
c.230G>C
1 paper
NM_024775.10
p.T70T
c.210T>A
1 paper
NM_024775.10
p.M61V
c.181A>G
1 paper
NM_024775.10
p.G59R
c.175G>A
1 paper
NM_024775.10
p.G59R
c.175G>C
1 paper
NM_024775.10
p.G59*
c.175G>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."