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.G250S

c.748G>A

Surrounding Variants

8 papers

NM_002435.3

p.Y255C

c.764A>G

1 paper

NM_002435.3

p.L239_Q240insCAG

c.715_719ins9

1 paper

NM_002435.3

p.L237F

c.709C>T

1 paper

NM_002435.3

p.P264L

c.791C>T

1 paper

NM_002435.3

p.A226A

c.678C>T

1 paper

NM_002435.3

p.A226S

c.676G>T

1 paper

NM_002435.3

p.L279Q

c.836T>A

2 papers

NM_002435.3

p.G281_D282del1

c.842_844delGAG

3 papers

NM_002435.3

p.A288V

c.863C>T

11 papers

NM_002435.3

p.R295H

c.884G>A

1 paper

NM_002435.3

p.S319T

c.956G>C

1 paper

NM_002435.3

p.L325delFs

c.973delC