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

5 papers

NM_000876.4

p.T1314fs

c.3940_3941fs

Surrounding Variants

3 papers

NM_000876.4

p.D1317insFs

c.3949dupG

1 paper

NM_000876.4

p.G1316_D1317insFs

c.3948_3949dupGG

1 paper

NM_000876.4

p.T1314delFs

c.3942delG

4 papers

NM_000876.4

p.G1315E

c.3944G>A

4 papers

NM_000876.4

p.G1315A

c.3944G>C

2 papers

NM_000876.4

p.D1317fs

c.3949_3950fs

1 paper

NM_000876.4

p.H1320Y

c.3958C>T

1 paper

NM_000876.4

p.V1322F

c.3964G>T

2 papers

NM_000876.4

p.L1297_L1298insT

c.3889_3893ins3

1 paper

NM_000876.4

p.R1335C

c.4003C>T

1 paper

NM_000876.4

p.T1337A

c.4009A>G

1 paper

NM_000876.4

p.Q1338*

c.4012C>T