Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.T330K

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.T330K
c.989C>A
Surrounding Variants
1 paper
NM_006548.6
p.G329V
c.986G>T
1 paper
NM_006548.6
p.G329S
c.985G>A
1 paper
NM_006548.6
p.E332K
c.994G>A
1 paper
NM_006548.6
p.T326A
c.976A>G
1 paper
NM_006548.6
p.I325insFs
c.973dupA
1 paper
NM_006548.6
p.T324delFs
c.972delG
1 paper
NM_006548.6
p.T324delFs
c.970_971delGT
1 paper
NM_006548.6
p.R323S
c.969A>T
1 paper
NM_006548.6
p.R323S
c.969A>C
1 paper
NM_006548.6
p.R323_T324insFs
c.969_970insTT
1 paper
NM_006548.6
p.S336delFs
c.1007_1008delAC
2 papers
NM_006548.6
p.E322K
c.964G>A
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