Varaico: Literature-Extracted Genetic Variants

Gene:GNL1
Variant:p.V546M

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
Selected Variant
1 paper
NM_005275.5
p.V546M
c.1636G>A
Surrounding Variants
1 paper
NM_005275.5
p.E565E
c.1695G>A
1 paper
NM_005275.5
p.E567K
c.1699G>A
1 paper
NM_005275.5
p.S587L
c.1760C>T
2 papers
NM_005275.5
p.G522S
c.1564G>A
1 paper
NM_005275.5
p.A455V
c.1364C>T
1 paper
NM_005275.5
p.A435A
c.1305C>A
1 paper
NM_005275.5
p.A429A
c.1287A>G
1 paper
NM_005275.5
p.L421L
c.1261C>T
2 papers
NM_005275.5
p.P413Q
c.1238C>A
1 paper
NM_005275.5
p.D411A
c.1232A>C
1 paper
NM_005275.5
p.P405R
c.1214C>G
1 paper
NM_005275.5
p.P405S
c.1213C>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."