Varaico: Literature-Extracted Genetic Variants

IGF2R

486 papers

RefSeq Summary

This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has variou...

Pfam Domains

CIMRaa 123–270UCSCCation-independent mannose-6-phosphate receptor repeat

CIMRaa 277–421UCSCCation-independent mannose-6-phosphate receptor repeat

CIMRaa 423–573UCSCCation-independent mannose-6-phosphate receptor repeat

CIMRaa 575–716UCSCCation-independent mannose-6-phosphate receptor repeat

CIMRaa 720–876UCSCCation-independent mannose-6-phosphate receptor repeat

CIMRaa 882–1026UCSCCation-independent mannose-6-phosphate receptor repeat

Gene Aliases

HGNC Name

insulin like growth factor 2 receptor

HGNC Alias Symbols

CD222; MPRI; MPR1; CIMPR; M6P-R; CI-M6PR; CI-MPR; MPR300

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000876.4

p.P248S

c.742C>T

Surrounding Variants

2 papers

NM_000876.4

p.R249Q

c.746G>A

15 papers

NM_000876.4

p.L252V

c.754C>G

2 papers

NM_000876.4

p.A242V

c.725C>T

1 paper

NM_000876.4

p.R256G

c.766C>G

1 paper

NM_000876.4

p.G239E

c.716G>A

1 paper

NM_000876.4

p.G231D

c.692G>A

1 paper

NM_000876.4

p.G231S

c.691G>A

1 paper

NM_000876.4

p.P230L

c.689C>T

1 paper

NM_000876.4

p.P229L

c.686C>T

1 paper

NM_000876.4

p.P229fs

c.685_686fs

1 paper

NM_000876.4

p.P229insFs

c.685dupC

1 paper

NM_000876.4

p.C228fs

c.682_683fs