Varaico: Literature-Extracted Genetic Variants

Gene:LSG1
Variant:p.S413C

LSG1

61 papers

RefSeq Summary

This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provi...

Pfam Domains

MMR_HSR1aa 388–468UCSC50S ribosome-binding GTPase

Gene Aliases

HGNC Name

large 60S subunit nuclear export GTPase 1

HGNC Alias Symbol

FLJ11301

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018385.3
p.S413C
c.1238C>G
Surrounding Variants
1 paper
NM_018385.3
p.H423P
c.1268A>C
1 paper
NM_018385.3
p.T402T
c.1206A>G
1 paper
NM_018385.3
p.V397I
c.1189G>A
1 paper
NM_018385.3
p.Y394C
c.1181A>G
1 paper
NM_018385.3
p.Y428H
c.1282T>C
3 papers
NM_018385.3
p.L433F
c.1297C>T
1 paper
NM_018385.3
p.P444S
c.1330C>T
2 papers
NM_018385.3
p.R347W
c.1039C>T
1 paper
NM_018385.3
p.E314K
c.940G>A
1 paper
NM_018385.3
p.D301Y
c.901G>T
1 paper
NM_018385.3
p.T299T
c.897A>G
1 paper
NM_018385.3
p.E296K
c.886G>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."