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.V1435M

c.4303G>A

Surrounding Variants

1 paper

NM_000876.4

p.R1441G

c.4321A>G

1 paper

NM_000876.4

p.A1426T

c.4276G>A

1 paper

NM_000876.4

p.P1444H

c.4331C>A

5 papers

NM_000876.4

p.Q1445H

c.4335G>C

5 papers

NM_000876.4

p.Q1445H

c.4335G>T

7 papers

NM_000876.4

p.G1449V

c.4346G>T

1 paper

NM_000876.4

p.V1452I

c.4354G>A

1 paper

NM_000876.4

p.L1460I

c.4378T>A

5 papers

NM_000876.4

p.G1464E

c.4391G>A

1 paper

NM_000876.4

p.R1466W

c.4396C>T

1 paper

NM_000876.4

p.S1469P

c.4405T>C

1 paper

NM_000876.4

p.F1474L

c.4420T>C