Varaico: Literature-Extracted Genetic Variants

Gene:GNL1

GNL1

37 papers

RefSeq Summary

The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeri...

Pfam Domains

MMR_HSR1aa 362–455UCSC50S ribosome-binding GTPase

Gene Aliases

HGNC Name

G protein nucleolar 1 (putative)

HGNC Alias Symbol

HSR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
2 papers
NM_005275.5
p.P413Q
c.1238C>A
2 papers
NM_005275.5
p.G522S
c.1564G>A
1 paper
NM_005275.5
p.R3K
c.8G>A
1 paper
NM_005275.5
p.V9M
c.25G>A
1 paper
NM_005275.5
p.L26P
c.77T>C
1 paper
NM_005275.5
p.S36I
c.107G>T
1 paper
NM_005275.5
p.Q47E
c.139C>G
1 paper
NM_005275.5
p.Q69P
c.206A>C
1 paper
NM_005275.5
p.K97R
c.290A>G
1 paper
NM_005275.5
p.R118Q
c.353G>A
1 paper
NM_005275.5
p.E148K
c.442G>A
1 paper
NM_005275.5
p.E166G
c.497A>G
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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."