Varaico: Literature-Extracted Genetic Variants

Gene:MRI1
Variant:p.V250M

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.V250M
c.748G>A
Surrounding Variants
1 paper
NM_001031727.4
p.D248A
c.743A>C
1 paper
NM_001031727.4
p.D248G
c.743A>G
1 paper
NM_001031727.4
p.N253S
c.758A>G
1 paper
NM_001031727.4
p.V245A
c.734T>C
1 paper
NM_001031727.4
p.T256R
c.767C>G
1 paper
NM_001031727.4
p.Y277C
c.830A>G
1 paper
NM_001031727.4
p.I295V
c.883A>G
2 papers
NM_001031727.4
p.D307N
c.919G>A
4 papers
NM_001031727.4
p.R210Q
c.629G>A
1 paper
NM_001031727.4
p.N206S
c.617A>G
1 paper
NM_001031727.4
p.R203Q
c.608G>A
1 paper
NM_001031727.4
p.S187P
c.559T>C
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