Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.K344delFs

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.K344delFs
c.1030delT
Surrounding Variants
1 paper
NM_006548.6
p.L345P
c.1034T>C
4 papers
NM_006548.6
p.K344E
c.1030A>G
1 paper
NM_006548.6
p.E347G
c.1040A>G
1 paper
NM_006548.6
p.E340_I341delFs
c.1020_1023del4
1 paper
NM_006548.6
p.E347delFs
c.1040_1041delCT
1 paper
NM_006548.6
p.A348V
c.1043C>T
1 paper
NM_006548.6
p.E340D
c.1020G>T
1 paper
NM_006548.6
p.A348A
c.1044C>T
1 paper
NM_006548.6
p.F349Y
c.1046T>A
1 paper
NM_006548.6
p.N351H
c.1051A>C
1 paper
NM_006548.6
p.S336delFs
c.1007_1008delAC
1 paper
NM_006548.6
p.D352A
c.1055A>C
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