Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP1
Variant:p.G504C

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.G504C
c.1510G>T
Surrounding Variants
1 paper
NM_006546.4
p.R501W
c.1501C>T
1 paper
NM_006546.4
p.G507E
c.1520G>A
1 paper
NM_006546.4
p.K508R
c.1523A>G
1 paper
NM_006546.4
p.T509fs
c.1525_1526fs
1 paper
NM_006546.4
p.K483R
c.1448A>G
1 paper
NM_006546.4
p.F479F
c.1437C>T
1 paper
NM_006546.4
p.N478I
c.1433A>T
1 paper
NM_006546.4
p.K475R
c.1424A>G
1 paper
NM_006546.4
p.A518T
c.1552G>A
2 papers
NM_006546.4
p.D526E
c.1578C>A
2 papers
NM_006546.4
p.D526E
c.1578C>G
1 paper
NM_006546.4
p.K538R
c.1613A>G
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