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

1–12 of 68 variants

3 papers

NM_002355.4

p.F2ins1

c.4_5insTGT

2 papers

NM_002355.4

p.M1_F2insTGT

c.1_5ins9

2 papers

NM_002355.4

p.Y5_S6insGTT

c.13_17ins9

2 papers

NM_002355.4

p.L12M

c.34C>A

2 papers

NM_002355.4

p.Q66E

c.196C>G

2 papers

NM_002355.4

p.R147Q

c.440G>A

2 papers

NM_002355.4

p.R147R

c.441A>T

1 paper

NM_002355.4

p.M1ins1

c.1_2insTGT

1 paper

NM_002355.4

p.M1ins1

c.1_2insGGT

1 paper

NM_002355.4

p.M1_F2insL

c.1_5ins3

1 paper

NM_002355.4

p.M1I

c.3G>T

1 paper

NM_002355.4

p.M1I

c.3G>C