Varaico: Literature-Extracted Genetic Variants

Gene:IGFBP3
Variant:p.S30G

IGFBP3

230 papers

RefSeq Summary

This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex...

Pfam Domains

IGFBPaa 40–94UCSCInsulin-like growth factor binding protein
Thyroglobulin_1aa 213–285UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

insulin like growth factor binding protein 3

HGNC Alias Symbols

IBP3; BP-53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000598.5
p.S30G
c.88A>G
Surrounding Variants
1 paper
NM_000598.5
p.A29T
c.85G>A
16 papers
NM_000598.5
p.A32G
c.95C>G
1 paper
NM_000598.5
p.S31delFs
c.93delC
1 paper
NM_000598.5
p.V24L
c.70G>T
2 papers
NM_000598.5
p.R20C
c.58C>T
1 paper
NM_000598.5
p.E41A
c.122A>C
1 paper
NM_000598.5
p.L18R
c.53T>G
1 paper
NM_000598.5
p.V17V
c.51G>A
1 paper
NM_000598.5
p.A12V
c.35C>T
1 paper
NM_000598.5
p.L48L
c.144G>C
1 paper
NM_000598.5
p.A11G
c.32C>G
1 paper
NM_000598.5
p.C51S
c.152G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."