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.N155D

c.463A>G

Surrounding Variants

1 paper

NM_002355.4

p.M173V

c.517A>G

1 paper

NM_002355.4

p.D174A

c.521A>C

1 paper

NM_002355.4

p.T195M

c.584C>T

2 papers

NM_002355.4

p.R147R

c.441A>T

2 papers

NM_002355.4

p.R147Q

c.440G>A

1 paper

NM_002355.4

p.I143M

c.429C>G

1 paper

NM_002355.4

p.R138L

c.413G>T

1 paper

NM_002355.4

p.R137L

c.410G>T

1 paper

NM_002355.4

p.K134delFs

c.402delC

1 paper

NM_002355.4

p.L120L

c.360G>A

1 paper

NM_002355.4

p.N116I

c.347A>T

1 paper

NM_002355.4

p.T195M

c.584C>T