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.K30I

c.89A>T

Surrounding Variants

1 paper

NM_002355.4

p.T31insFs

c.91dupA

1 paper

NM_002355.4

p.K30_T31delFs

c.90_91delTT

1 paper

NM_002355.4

p.E28*

c.82G>T

1 paper

NM_002355.4

p.W25del1

c.73_75delCCA

1 paper

NM_002355.4

p.E37K

c.109G>A

1 paper

NM_002355.4

p.G39S

c.115G>A

1 paper

NM_002355.4

p.A20S

c.58G>T

1 paper

NM_002355.4

p.K44N

c.132A>T

1 paper

NM_002355.4

p.K44N

c.132A>C

1 paper

NM_002355.4

p.L14I

c.40C>A

2 papers

NM_002355.4

p.L12M

c.34C>A

1 paper

NM_002355.4

p.G11E

c.32G>A