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

1–12 of 620 variants

15 papers

NM_000876.4

p.L252V

c.754C>G

12 papers

NM_000876.4

p.N2020S

c.6059A>G

7 papers

NM_000876.4

p.G1449V

c.4346G>T

7 papers

NM_000876.4

p.I1572T

c.4715T>C

6 papers

NM_000876.4

p.L1240V

c.3718C>G

6 papers

NM_000876.4

p.R1619G

c.4855A>G

5 papers

NM_000876.4

p.L817V

c.2449C>G

5 papers

NM_000876.4

p.T1314fs

c.3940_3941fs

5 papers

NM_000876.4

p.Q1445H

c.4335G>C

5 papers

NM_000876.4

p.Q1445H

c.4335G>T

5 papers

NM_000876.4

p.G1464E

c.4391G>A

5 papers

NM_000876.4

p.N2348S

c.7043A>G