Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.R388C

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.R388C
c.1162C>T
Surrounding Variants
1 paper
NM_006548.6
p.R388H
c.1163G>A
15 papers
NM_006548.6
p.P387L
c.1160C>T
1 paper
NM_006548.6
p.G389R
c.1165G>C
1 paper
NM_006548.6
p.G389R
c.1165G>A
2 papers
NM_006548.6
p.G386A
c.1157G>C
1 paper
NM_006548.6
p.G386E
c.1157G>A
2 papers
NM_006548.6
p.A390V
c.1169C>T
1 paper
NM_006548.6
p.A385delFs
c.1154delG
1 paper
NM_006548.6
p.P384S
c.1150C>T
1 paper
NM_006548.6
p.P392A
c.1174C>G
44 papers
NM_006548.6
p.P392L
c.1175C>T
1 paper
NM_006548.6
p.A393S
c.1177G>T
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