Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.Y148*

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.Y148*
c.444C>A
Surrounding Variants
1 paper
NM_006548.6
p.S149A
c.445T>G
2 papers
NM_006548.6
p.S149S
c.447C>A
1 paper
NM_006548.6
p.Y148_S149delFs
c.442_446del5
1 paper
NM_006548.6
p.S149_F150delFs
c.447_448delAG
1 paper
NM_006548.6
p.E146D
c.438G>T
1 paper
NM_006548.6
p.E146insFs
c.437dupA
1 paper
NM_006548.6
p.E146D
c.438G>C
1 paper
NM_006548.6
p.K151N
c.453G>T
1 paper
NM_006548.6
p.I152T
c.455T>C
1 paper
NM_006548.6
p.Q144H
c.432G>T
1 paper
NM_006548.6
p.Q144*
c.430C>T
1 paper
NM_006548.6
p.L140_G142delFs
c.420_426del7
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