Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.A103V

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
3 papers
NM_006548.6
p.A103V
c.308C>T
Surrounding Variants
1 paper
NM_006548.6
p.A103D
c.308C>A
1 paper
NM_006548.6
p.A103S
c.307G>T
2 papers
NM_006548.6
p.Q104delFs
c.311_312delTT
1 paper
NM_006548.6
p.L101R
c.302T>G
2 papers
NM_006548.6
p.L101P
c.302T>C
1 paper
NM_006548.6
p.Y105_G106insFs
c.315_316insC
1 paper
NM_006548.6
p.Y105insFs
c.315dupT
1 paper
NM_006548.6
p.G100A
c.299G>C
1 paper
NM_006548.6
p.G100E
c.299G>A
1 paper
NM_006548.6
p.D99N
c.295G>A
2 papers
NM_006548.6
p.L98L
c.294G>A
1 paper
NM_006548.6
p.L98S
c.293T>C
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