Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP1
Variant:p.E295D

IGF2BP1

108 papers

RefSeq Summary

This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functio...

Pfam Domains

RRM_1aa 4–69UCSCRNA recognition motif
RRM_1aa 83–150UCSCRNA recognition motif
KH_1aa 197–262UCSCKH domain
KH_1aa 197–262UCSCKH domain
KH_1aa 278–345UCSCKH domain
KH_1aa 278–345UCSCKH domain

Gene Aliases

HGNC Name

insulin like growth factor 2 mRNA binding protein 1

HGNC Alias Symbols

IMP-1; IMP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006546.4
p.E295D
c.885A>C
Surrounding Variants
2 papers
NM_006546.4
p.E295D
c.885A>T
1 paper
NM_006546.4
p.S314L
c.941C>T
1 paper
NM_006546.4
p.S314Splc
c.941+1G>A
1 paper
NM_006546.4
p.D275N
c.823G>A
1 paper
NM_006546.4
p.C337S
c.1009T>A
1 paper
NM_006546.4
p.C337S
c.1010G>C
1 paper
NM_001160423.2
p.A200A
c.600C>T
1 paper
NM_006546.4
p.E340K
c.1018G>A
1 paper
NM_006546.4
p.Y351*
c.1053T>A
1 paper
NM_006546.4
p.Y351*
c.1053T>G
1 paper
NM_006546.4
p.A357T
c.1069G>A
1 paper
NM_006546.4
p.S359S
c.1077C>T
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