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.R1582K

c.4745G>A

Surrounding Variants

1 paper

NM_000876.4

p.V1574M

c.4720G>A

1 paper

NM_000876.4

p.S1573S

c.4719C>T

1 paper

NM_000876.4

p.S1573N

c.4718G>A

7 papers

NM_000876.4

p.I1572T

c.4715T>C

1 paper

NM_000876.4

p.K1593R

c.4778A>G

1 paper

NM_000876.4

p.T1570A

c.4708A>G

1 paper

NM_000876.4

p.Q1569R

c.4706A>G

1 paper

NM_000876.4

p.Q1569L

c.4706A>T

1 paper

NM_000876.4

p.S1596A

c.4786T>G

1 paper

NM_000876.4

p.P1597H

c.4790C>A

1 paper

NM_000876.4

p.P1599T

c.4795C>A

1 paper

NM_000876.4

p.A1565S

c.4693G>T