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

2 papers

NM_000876.4

p.T1184S

c.3551C>G

Surrounding Variants

2 papers

NM_000876.4

p.T1184S

c.3550A>T

1 paper

NM_000876.4

p.R1181C

c.3541C>T

1 paper

NM_000876.4

p.I1193L

c.3577A>C

1 paper

NM_000876.4

p.I1193L

c.3577A>T

3 papers

NM_000876.4

p.S1194L

c.3581C>T

1 paper

NM_000876.4

p.M1170I

c.3510G>A

1 paper

NM_000876.4

p.M1170I

c.3510G>C

1 paper

NM_000876.4

p.M1170I

c.3510G>T

1 paper

NM_000876.4

p.M1170T

c.3509T>C

1 paper

NM_000876.4

p.M1170V

c.3508A>G

1 paper

NM_000876.4

p.S1168R

c.3504C>A

1 paper

NM_000876.4

p.S1168R

c.3504C>G