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

6 papers

NM_000876.4

p.R1619G

c.4855A>G

Surrounding Variants

1 paper

NM_000876.4

p.A1618T

c.4852G>A

1 paper

NM_000876.4

p.N1622S

c.4865A>G

1 paper

NM_000876.4

p.S1628F

c.4883C>T

1 paper

NM_000876.4

p.L1604R

c.4811T>G

1 paper

NM_000876.4

p.T1635S

c.4903A>T

1 paper

NM_000876.4

p.T1635S

c.4904C>G

1 paper

NM_000876.4

p.K1601R

c.4802A>G

1 paper

NM_000876.4

p.P1599T

c.4795C>A

1 paper

NM_000876.4

p.P1597H

c.4790C>A

1 paper

NM_000876.4

p.S1596A

c.4786T>G

1 paper

NM_000876.4

p.T1642M

c.4925C>T

1 paper

NM_000876.4

p.K1593R

c.4778A>G