Varaico: Literature-Extracted Genetic Variants

Gene:GAR1
Variant:p.A135V

GAR1

59 papers

RefSeq Summary

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into t...

Pfam Domains

Gar1aa 70–158UCSCGar1/Naf1 RNA binding region

Gene Aliases

HGNC Name

GAR1 ribonucleoprotein

HGNC Previous Symbol

NOLA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018983.4
p.A135V
c.404C>T
Surrounding Variants
1 paper
NM_018983.4
p.A135S
c.403G>T
1 paper
NM_018983.4
p.S130S
c.390A>T
1 paper
NM_018983.4
p.S126P
c.376T>C
1 paper
NM_018983.4
p.F123_Y124Splc
c.370-46C>T
1 paper
NM_018983.4
p.E108K
c.322G>A
1 paper
NM_018983.4
p.T90I
c.269C>T
1 paper
NM_018983.4
p.P67S
c.199C>T
1 paper
NM_018983.4
p.G48E
c.143G>A
1 paper
NM_018983.4
p.G35G
c.105T>G
5 papers
NM_018983.4
p.H28L
c.83A>T
1 paper
NM_018983.4
p.G24G
c.72C>G
1 paper
NM_018983.4
p.G16G
c.48A>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."