Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP1
Variant:p.S181P

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
1 paper
NM_006546.4
p.S181P
c.541T>C
Surrounding Variants
2 papers
NM_006546.4
p.S181A
c.541T>G
1 paper
NM_006546.4
p.S181*
c.542C>A
1 paper
NM_006546.4
p.S181*
c.542C>G
1 paper
NM_006546.4
p.G180G
c.540C>T
1 paper
NM_006546.4
p.A184G
c.551C>G
1 paper
NM_006546.4
p.G175D
c.524G>A
1 paper
NM_006546.4
p.A187fs
c.559_560fs
1 paper
NM_006546.4
p.A187insFs
c.560_561ins11
1 paper
NM_006546.4
p.F171fs
c.511_512fs
1 paper
NM_006546.4
p.R168Q
c.503G>A
1 paper
NM_006546.4
p.E164A
c.491A>C
1 paper
NM_006546.4
p.L200L
c.600C>T
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