Varaico: Literature-Extracted Genetic Variants

Gene:MRI1
Variant:p.R90L

MRI1

31 papers

RefSeq Summary

This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein ...

Pfam Domains

IF-2Baa 44–346UCSCInitiation factor 2 subunit family

Gene Aliases

HGNC Name

methylthioribose-1-phosphate isomerase 1

HGNC Alias Symbols

MGC3207; Ypr118w; mtnA; MRDI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001031727.4
p.R90L
c.269G>T
Surrounding Variants
1 paper
NM_001031727.4
p.G68E
c.203G>A
1 paper
NM_001031727.4
p.V61M
c.181G>A
1 paper
NM_001031727.4
p.R122fs
c.364_365fs
1 paper
NM_001031727.4
p.R122_E123insFs
c.366_367ins4
1 paper
NM_001031727.4
p.R124Splc
c.371+8G>C
1 paper
NM_001031727.4
p.A50V
c.149C>T
1 paper
NM_001031727.4
p.P49R
c.146C>G
2 papers
NM_001031727.4
p.S12F
c.35C>T
1 paper
NM_001031727.4
p.D136H
c.406G>C
1 paper
NM_001031727.4
p.S158I
c.473G>T
1 paper
NM_001031727.4
p.C168S
c.502T>A
1 paper
NM_001031727.4
p.C168S
c.503G>C
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