Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN7
Variant:p.S122T

GEMIN7

17 papers

RefSeq Summary

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear 'gems' (Gem...

Pfam Domains

Gemin7aa 54–129UCSCGem-associated protein 7 (Gemin7)

Gene Aliases

HGNC Name

gem nuclear organelle associated protein 7

HGNC Alias Symbol

FLJ13956

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024707.3
p.S122T
c.365G>C
Surrounding Variants
1 paper
NM_024707.3
p.T128P
c.382A>C
1 paper
NM_024707.3
p.A115V
c.344C>T
1 paper
NM_024707.3
p.A100T
c.298G>A
1 paper
NM_024707.3
p.G75C
c.223G>T
1 paper
NM_024707.3
p.L71Q
c.212T>A
1 paper
NM_024707.3
p.R68C
c.202C>T
1 paper
NM_024707.3
p.E52K
c.154G>A
1 paper
NM_024707.3
p.A47A
c.141T>A
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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."