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.D80ins1

c.239_240insCAG

Surrounding Variants

1 paper

NM_002435.3

p.N78I

c.233A>T

1 paper

NM_002435.3

p.S72R

c.216C>A

1 paper

NM_002435.3

p.S72_Q73insFs

c.216_217insA

1 paper

NM_002435.3

p.S72R

c.216C>G

1 paper

NM_002435.3

p.S72R

c.214A>C

1 paper

NM_002435.3

p.T89_F90insCAG

c.265_269ins9

1 paper

NM_002435.3

p.N93T

c.278A>C

1 paper

NM_002435.3

p.S67L

c.200C>T

1 paper

NM_002435.3

p.R65C

c.193C>T

1 paper

NM_002435.3

p.N64K

c.192C>G

1 paper

NM_002435.3

p.N64S

c.191A>G

1 paper

NM_002435.3

p.A59A

c.177C>A