Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.E138insFs

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 5–70UCSCRNA recognition motif
RRM_1aa 84–151UCSCRNA recognition motif
RRM_1aa 84–151UCSCRNA 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.E138insFs
c.412_413insT
Surrounding Variants
1 paper
NM_006548.6
p.E138*
c.412G>T
2 papers
NM_006548.6
p.E138A
c.413A>C
1 paper
NM_006548.6
p.M137insFs
c.411dupG
1 paper
NM_006548.6
p.I135_M137delFs
c.405_409del5
1 paper
NM_006548.6
p.K139fs
c.415_416fs
1 paper
NM_006548.6
p.A136V
c.407C>T
1 paper
NM_006548.6
p.I135Splc
c.405-1G>A
1 paper
NM_006548.6
p.E138_L140del0
c.414_419del6
2 papers
NM_006548.6
p.S141G
c.421A>G
1 paper
NM_006548.6
p.I135V
c.403A>G
1 paper
NM_006548.6
p.G142R
c.424G>A
1 paper
NM_006548.6
p.L140_G142delFs
c.420_426del7
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