Varaico: Literature-Extracted Genetic Variants

M6PR

76 papers

RefSeq Summary

This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from t...

Pfam Domains

Man-6-P_recepaa 24–277UCSCMannose-6-phosphate receptor

Man-6-P_recepaa 149–191UCSCMannose-6-phosphate receptor

Gene Aliases

HGNC Name

mannose-6-phosphate receptor, cation dependent

HGNC Alias Symbols

CD-MPR; CD-M6PR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002355.4

p.G104delFs

c.310delC

Surrounding Variants

1 paper

NM_002355.4

p.R105K

c.314G>A

1 paper

NM_002355.4

p.V103V

c.309A>G

1 paper

NM_002355.4

p.G98G

c.294G>A

1 paper

NM_002355.4

p.G98E

c.293G>A

1 paper

NM_002355.4

p.S115Splc

c.343+1G>C

1 paper

NM_002355.4

p.G89C

c.265G>T

1 paper

NM_002355.4

p.G89S

c.265G>A

1 paper

NM_002355.4

p.A88V

c.263C>T

1 paper

NM_002355.4

p.R79L

c.236G>T

1 paper

NM_002355.4

p.R76K

c.227G>A

1 paper

NM_002355.4

p.Y73_F75del3

c.217_224del9

1 paper

NM_002355.4

p.Y73_F75del0

c.218_223del6