Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.Q94*

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.Q94*
c.280C>T
Surrounding Variants
2 papers
NM_006548.6
p.L93L
c.277C>T
2 papers
NM_006548.6
p.P90L
c.269C>T
1 paper
NM_006548.6
p.P90_P91ins4
c.268_272ins12
3 papers
NM_006548.6
p.N88S
c.263A>G
1 paper
NM_006548.6
p.N88D
c.262A>G
1 paper
NM_006548.6
p.I84N
c.251T>A
2 papers
NM_006548.6
p.I84V
c.250A>G
1 paper
NM_006548.6
p.K83R
c.248A>G
1 paper
NM_006548.6
p.K83T
c.248A>C
1 paper
NM_006548.6
p.R82T
c.245G>C
1 paper
NM_006548.6
p.S81R
c.243C>A
1 paper
NM_006548.6
p.R80M
c.239G>T
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