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

3 papers

NM_002435.3

p.K163Splc

c.488-1G>C

Surrounding Variants

1 paper

NM_002435.3

p.E166Q

c.496G>C

1 paper

NM_002435.3

p.E166_F167insC

c.496_500ins3

1 paper

NM_002435.3

p.E166A

c.497A>C

2 papers

NM_002435.3

p.E166V

c.497A>T

1 paper

NM_002435.3

p.M183T

c.548T>C

1 paper

NM_002435.3

p.H185R

c.554A>G

1 paper

NM_002435.3

p.D186E

c.558C>A

1 paper

NM_002435.3

p.L201P

c.602T>C

1 paper

NM_002435.3

p.Q212Q

c.636G>A

1 paper

NM_002435.3

p.L215_A224delFs

c.645_670del26

2 papers

NM_002435.3

p.R219W

c.655C>T

19 papers

NM_002435.3

p.R219Q

c.656G>A