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

1–12 of 119 variants

19 papers

NM_002435.3

p.R219Q

c.656G>A

11 papers

NM_002435.3

p.R295H

c.884G>A

9 papers

NM_002435.3

p.M138T

c.413T>C

9 papers

NM_002435.3

p.R152Q

c.455G>A

9 papers

NM_002435.3

p.I398T

c.1193T>C

8 papers

NM_002435.3

p.S102L

c.305C>T

8 papers

NM_002435.3

p.Y255C

c.764A>G

6 papers

NM_002435.3

p.M51T

c.152T>C

5 papers

NM_002435.3

p.S108A

c.322T>G

5 papers

NM_002435.3

p.D131N

c.391G>A

5 papers

NM_002435.3

p.R418H

c.1253G>A

4 papers

NM_002435.3

p.P113L

c.338C>T