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

4 papers

NM_000876.4

p.C1262S

c.3784T>A

Surrounding Variants

4 papers

NM_000876.4

p.C1262S

c.3785G>C

1 paper

NM_000876.4

p.G1263E

c.3788G>A

1 paper

NM_000876.4

p.T1256S

c.3767C>G

1 paper

NM_000876.4

p.T1256S

c.3766A>T

1 paper

NM_000876.4

p.E1254K

c.3760G>A

1 paper

NM_000876.4

p.V1250A

c.3749T>C

1 paper

NM_000876.4

p.D1274N

c.3820G>A

6 papers

NM_000876.4

p.L1240V

c.3718C>G

1 paper

NM_000876.4

p.G1296R

c.3886G>C

2 papers

NM_000876.4

p.L1297_L1298insT

c.3889_3893ins3

1 paper

NM_000876.4

p.V1219I

c.3655G>A

1 paper

NM_000876.4

p.V1219_V1220insT

c.3655_3659ins3