Varaico: Literature-Extracted Genetic Variants

Gene:IGFBP3
Variant:p.L75L

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.L75L
c.223C>T
Surrounding Variants
1 paper
NM_000598.5
p.A74T
c.220G>A
1 paper
NM_000598.5
p.S76T
c.227G>C
1 paper
NM_000598.5
p.G78D
c.233G>A
1 paper
NM_000598.5
p.L71L
c.213G>A
1 paper
NM_000598.5
p.C81R
c.241T>C
1 paper
NM_000598.5
p.C81W
c.243C>G
1 paper
NM_000598.5
p.G68C
c.202G>T
1 paper
NM_000598.5
p.G66D
c.197G>A
1 paper
NM_000598.5
p.P65_G66insFs
c.195_196insT
1 paper
NM_000598.5
p.E64*
c.190G>T
1 paper
NM_000598.5
p.V62A
c.185T>C
1 paper
NM_000598.5
p.G89D
c.266G>A
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