Varaico: Literature-Extracted Genetic Variants

Gene:GAR1
Variant:p.S2S

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.S2S
c.6T>C
Surrounding Variants
1 paper
NM_018983.4
p.M1_S2insFs
c.3_4insA
1 paper
NM_018983.4
p.R4*
c.10C>T
1 paper
NM_018983.4
p.R8S
c.22C>A
1 paper
NM_018983.4
p.R8P
c.23G>C
1 paper
NM_018983.4
p.R13R
c.39A>G
1 paper
NM_018983.4
p.G16G
c.48A>G
1 paper
NM_018983.4
p.G24G
c.72C>G
5 papers
NM_018983.4
p.H28L
c.83A>T
1 paper
NM_018983.4
p.G35G
c.105T>G
1 paper
NM_018983.4
p.G48E
c.143G>A
1 paper
NM_018983.4
p.P67S
c.199C>T
1 paper
NM_018983.4
p.T90I
c.269C>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."