Varaico: Literature-Extracted Genetic Variants

Gene:GAR1
Variant:p.R160Q

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.R160Q
c.479G>A
Surrounding Variants
1 paper
NM_018983.4
p.E164K
c.490G>A
3 papers
NM_018983.4
p.K150K
c.450G>A
1 paper
NM_018983.4
p.G172C
c.514G>T
2 papers
NM_018983.4
p.G175C
c.523G>T
1 paper
NM_018983.4
p.R176*
c.526C>T
1 paper
NM_018983.4
p.K143_F144Splc
c.430-2A>G
1 paper
NM_018983.4
p.G190G
c.570C>A
1 paper
NM_018983.4
p.G201fs
c.601_602fs
1 paper
NM_018983.4
p.G202R
c.604G>A
1 paper
NM_018983.4
p.G202R
c.604G>C
1 paper
NM_018983.4
p.A135V
c.404C>T
1 paper
NM_018983.4
p.A135S
c.403G>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."