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.G2293R

c.6877G>C

Surrounding Variants

1 paper

NM_000876.4

p.G2293R

c.6877G>A

1 paper

NM_000876.4

p.D2292N

c.6874G>A

1 paper

NM_000876.4

p.H2296Y

c.6886C>T

1 paper

NM_000876.4

p.V2306V

c.6918C>T

1 paper

NM_000876.4

p.G2307S

c.6919G>A

1 paper

NM_000876.4

p.A2308T

c.6922G>A

3 papers

NM_000876.4

p.A2308V

c.6923C>T

1 paper

NM_000876.4

p.S2311delFs

c.6933delC

2 papers

NM_000876.4

p.A2316A

c.6948G>A

1 paper

NM_000876.4

p.K2329R

c.6986A>G

1 paper

NM_000876.4

p.R2332Splc

c.6995+6C>T

1 paper

NM_000876.4

p.R2332Splc

c.6996-5T>A