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.G393A

c.1178G>C

Surrounding Variants

1 paper

NM_002435.3

p.P389P

c.1167T>C

1 paper

NM_002435.3

p.L390insFs

c.1168_1169insC

1 paper

NM_002435.3

p.L390_F397del0

c.1168_1191del24

9 papers

NM_002435.3

p.I398T

c.1193T>C

1 paper

NM_002435.3

p.T381_T384del4

c.1141_1151del12

1 paper

NM_002435.3

p.L408R

c.1223T>G

1 paper

NM_002435.3

p.G375R

c.1123G>A

1 paper

NM_002435.3

p.G375R

c.1123G>C

1 paper

NM_002435.3

p.F417Y

c.1250T>A

1 paper

NM_002435.3

p.R418C

c.1252C>T

5 papers

NM_002435.3

p.R418H

c.1253G>A

1 paper

NM_002435.3

p.A419S

c.1255G>T