Varaico: Literature-Extracted Genetic Variants

IGF2BP3

103 papers

RefSeq Summary

The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like gro...

Pfam Domains

RRM_1aa 4–69UCSCRNA recognition motif

RRM_1aa 83–150UCSCRNA recognition motif

KH_1aa 197–262UCSCKH domain

KH_1aa 278–345UCSCKH domain

KH_1aa 407–472UCSCKH domain

KH_1aa 489–555UCSCKH domain

Gene Aliases

HGNC Name

insulin like growth factor 2 mRNA binding protein 3

HGNC Alias Symbols

IMP-3; CT98

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006547.3

p.R171L

c.512G>T

Surrounding Variants

1 paper

NM_006547.3

p.L174insFs

c.520_521insT

1 paper

NM_006547.3

p.L174insFs

c.521_522insT

1 paper

NM_006547.3

p.K150Q

c.448A>C

1 paper

NM_006547.3

p.Q205insFs

c.614dupA

1 paper

NM_006547.3

p.K213E

c.637A>G

1 paper

NM_006547.3

p.K213R

c.638A>G

1 paper

NM_006547.3

p.G215V

c.644G>T

1 paper

NM_006547.3

p.K228Splc

c.683+26T>C

1 paper

NM_006547.3

p.A237V

c.710C>T

1 paper

NM_006547.3

p.S243T

c.727T>A

1 paper

NM_006547.3

p.I246N

c.737T>A

1 paper

NM_006547.3

p.K258E

c.772A>G