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.K218_F223del6

c.652_668del18

Surrounding Variants

1 paper

NM_002355.4

p.Q222delFs

c.664delG

1 paper

NM_002355.4

p.W229L

c.686G>T

1 paper

NM_002355.4

p.G233A

c.698G>C

1 paper

NM_002355.4

p.G206R

c.616G>A

1 paper

NM_002355.4

p.A201V

c.602C>T

1 paper

NM_002355.4

p.T195M

c.584C>T

1 paper

NM_002355.4

p.G257D

c.770G>A

1 paper

NM_002355.4

p.G259R

c.775G>A

1 paper

NM_002355.4

p.E269Q

c.805G>C

1 paper

NM_002355.4

p.R270M

c.809G>T

1 paper

NM_002355.4

p.M277I

c.831G>A

1 paper

NM_002355.4

p.T195M

c.584C>T