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.D1662_G1672del11

c.4984_5015del33

Surrounding Variants

1 paper

NM_000876.4

p.D1677G

c.5030A>G

4 papers

NM_000876.4

p.D1681Y

c.5041G>T

1 paper

NM_000876.4

p.S1684S

c.5052C>T

4 papers

NM_000876.4

p.Q1696R

c.5087A>G

1 paper

NM_000876.4

p.C1706Y

c.5117G>A

1 paper

NM_000876.4

p.A1649_T1650Splc

c.4948-101T>A

1 paper

NM_000876.4

p.C1713Y

c.5138G>A

1 paper

NM_000876.4

p.I1717V

c.5149A>G

1 paper

NM_000876.4

p.A1649_T1650Splc

c.4947+20C>T

1 paper

NM_000876.4

p.A1649V

c.4946C>T

1 paper

NM_000876.4

p.T1642M

c.4925C>T

1 paper

NM_000876.4

p.T1635S

c.4904C>G