Varaico: Literature-Extracted Genetic Variants

Gene:IGFBP1
Variant:p.S186R

IGFBP1

111 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 N-terminal domain and a thyroglobulin type-I domain. The encoded protein, mai...

Pfam Domains

IGFBPaa 30–84UCSCInsulin-like growth factor binding protein
Thyroglobulin_1aa 176–251UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

insulin like growth factor binding protein 1

HGNC Previous Symbol

IBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000596.4
p.S186R
c.558T>A
Surrounding Variants
1 paper
NM_000596.4
p.S186R
c.558T>G
1 paper
NM_000596.4
p.S186R
c.556A>C
1 paper
NM_000596.4
p.A188S
c.562G>T
1 paper
NM_000596.4
p.V183I
c.547G>A
2 papers
NM_000596.4
p.R177Q
c.530G>A
1 paper
NM_000596.4
p.C176G
c.526T>G
1 paper
NM_000596.4
p.P204S
c.610C>T
1 paper
NM_000596.4
p.K208N
c.624G>C
1 paper
NM_000596.4
p.K208N
c.624G>T
1 paper
NM_000596.4
p.Y212H
c.634T>C
2 papers
NM_000596.4
p.R215G
c.643A>G
1 paper
NM_000596.4
p.Q216_C217Splc
c.648+2T>G
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