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.N93T

c.278A>C

Surrounding Variants

1 paper

NM_002435.3

p.T89_F90insCAG

c.265_269ins9

8 papers

NM_002435.3

p.S102L

c.305C>T

1 paper

NM_002435.3

p.E104D

c.312A>C

1 paper

NM_002435.3

p.E104D

c.312A>T

1 paper

NM_002435.3

p.D80ins1

c.239_240insCAG

5 papers

NM_002435.3

p.S108A

c.322T>G

1 paper

NM_002435.3

p.N78I

c.233A>T

1 paper

NM_002435.3

p.S108C

c.323C>G

1 paper

NM_002435.3

p.I109F

c.325A>T

1 paper

NM_002435.3

p.P113_N114insFs

c.339_342dup4

4 papers

NM_002435.3

p.P113L

c.338C>T

1 paper

NM_002435.3

p.S72R

c.216C>A