Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.L196delFs

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.L196delFs
c.587_588delCA
Surrounding Variants
1 paper
NM_006548.6
p.R197W
c.589C>T
1 paper
NM_006548.6
p.L196L
c.586C>T
1 paper
NM_006548.6
p.L199L
c.595C>T
1 paper
NM_006548.6
p.D193D
c.579T>C
1 paper
NM_006548.6
p.L199_V200delFs
c.597_598delCC
1 paper
NM_006548.6
p.I192T
c.575T>C
1 paper
NM_006548.6
p.T202A
c.604A>G
1 paper
NM_006548.6
p.T202T
c.606C>G
1 paper
NM_006548.6
p.V205I
c.613G>A
1 paper
NM_006548.6
p.Q188*
c.562C>T
1 paper
NM_006548.6
p.T186_S187insFs
c.558_559insC
1 paper
NM_006548.6
p.G184delFs
c.551delC
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