Varaico: Literature-Extracted Genetic Variants

MPI

162 papers

RefSeq Summary

Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required ...

Pfam Domains

PMI_typeI_cataa 6–154UCSCPhosphomannose isomerase type I, catalytic domain

PMI_typeI_helaa 170–257UCSCPhosphomannose isomerase type I, helical insertion domain

PMI_typeI_Caa 316–362UCSCPhosphomannose isomerase type I C-terminal

Gene Aliases

HGNC Name

mannose phosphate isomerase

HGNC Alias Name

mannose-6-phosphate isomerase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002435.3

p.E156K

c.466G>A

Surrounding Variants

1 paper

NM_002435.3

p.V158A

c.473T>C

9 papers

NM_002435.3

p.R152Q

c.455G>A

2 papers

NM_002435.3

p.R152L

c.455G>T

2 papers

NM_002435.3

p.K163*

c.487A>T

1 paper

NM_002435.3

p.K163Splc

c.487+1G>A

1 paper

NM_002435.3

p.F145L

c.435C>A

1 paper

NM_002435.3

p.A141V

c.422C>T

4 papers

NM_002435.3

p.I140T

c.419T>C

9 papers

NM_002435.3

p.M138T

c.413T>C

1 paper

NM_002435.3

p.A132_N133insFs

c.396_397insA

1 paper

NM_002435.3

p.D131V

c.392A>T

5 papers

NM_002435.3

p.D131N

c.391G>A