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.K2352N

c.7056A>T

Surrounding Variants

1 paper

NM_000876.4

p.K2352N

c.7056A>C

1 paper

NM_000876.4

p.S2354*

c.7061C>A

1 paper

NM_000876.4

p.S2354*

c.7061C>G

5 papers

NM_000876.4

p.N2348S

c.7043A>G

1 paper

NM_000876.4

p.R2332Splc

c.6996-5T>A

2 papers

NM_000876.4

p.P2379T

c.7135C>A

1 paper

NM_000876.4

p.Q2407H

c.7221G>C

1 paper

NM_000876.4

p.Q2407H

c.7221G>T

1 paper

NM_000876.4

p.E2430V

c.7289A>T

1 paper

NM_000876.4

p.E2430D

c.7290G>C

1 paper

NM_000876.4

p.E2430D

c.7290G>T

1 paper

NM_000876.4

p.N2437S

c.7310A>G