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.N2020T

c.6059A>C

Surrounding Variants

12 papers

NM_000876.4

p.N2020S

c.6059A>G

1 paper

NM_000876.4

p.L2017L

c.6051C>G

1 paper

NM_000876.4

p.L2017V

c.6049C>G

1 paper

NM_000876.4

p.S2023Splc

c.6068+1G>A

1 paper

NM_000876.4

p.S2016S

c.6048C>G

1 paper

NM_000876.4

p.S2016F

c.6047C>T

1 paper

NM_000876.4

p.L2011F

c.6031C>T

1 paper

NM_000876.4

p.L2008V

c.6022C>G

1 paper

NM_000876.4

p.D2004D

c.6012C>T

3 papers

NM_000876.4

p.D2004N

c.6010G>A

1 paper

NM_000876.4

p.G1974R

c.5920G>A

1 paper

NM_000876.4

p.G1974R

c.5920G>C