Varaico: Literature-Extracted Genetic Variants

IGF2BP2

1,233 papers

RefSeq Summary

This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is asso...

Pfam Domains

RRM_1aa 5–70UCSCRNA recognition motif

RRM_1aa 84–151UCSCRNA recognition motif

KH_1aa 195–260UCSCKH domain

Gene Aliases

HGNC Name

insulin like growth factor 2 mRNA binding protein 2

HGNC Alias Symbols

IMP-2; p62; P62

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006548.6

p.L58L

c.174C>G

Surrounding Variants

3 papers

NM_006548.6

p.G60Splc

c.178+1G>C

1 paper

NM_006548.6

p.T57S

c.169A>T

1 paper

NM_006548.6

p.T57P

c.169A>C

1 paper

NM_006548.6

p.E56fs

c.166_167fs

1 paper

NM_006548.6

p.A54_I55del1

c.161_163delTGG

1 paper

NM_006548.6

p.A54T

c.160G>A

1 paper

NM_006548.6

p.I52V

c.154A>G

1 paper

NM_006548.6

p.Q48*

c.142C>T

1 paper

NM_006548.6

p.Q48K

c.142C>A

1 paper

NM_006548.6

p.D47G

c.140A>G

1 paper

NM_006548.6

p.D47A

c.140A>C

1 paper

NM_006548.6

p.V34_D47delFs

c.102_139del38