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

6 papers

NM_002435.3

p.M51T

c.152T>C

Surrounding Variants

2 papers

NM_002435.3

p.R56insFs

c.166_167insC

1 paper

NM_002435.3

p.H54R

c.161A>G

1 paper

NM_002435.3

p.P55T

c.163C>A

1 paper

NM_002435.3

p.P55fs

c.163_164fs

3 papers

NM_002435.3

p.R56fs

c.166_167fs

1 paper

NM_002435.3

p.R56fs

c.166_167fs

2 papers

NM_002435.3

p.R56insFs

c.167_168insC

1 paper

NM_002435.3

p.G57V

c.170G>T

1 paper

NM_002435.3

p.A59A

c.177C>A

1 paper

NM_002435.3

p.N64S

c.191A>G

1 paper

NM_002435.3

p.N64K

c.192C>G

1 paper

NM_002435.3

p.R65C

c.193C>T