Varaico: Literature-Extracted Genetic Variants

Gene:IGFBP1
Variant:p.C48R

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.C48R
c.142T>C
Surrounding Variants
1 paper
NM_000596.4
p.C48Y
c.143G>A
5 papers
NM_000596.4
p.V44M
c.130G>A
1 paper
NM_000596.4
p.P42R
c.125C>G
2 papers
NM_000596.4
p.A55T
c.163G>A
1 paper
NM_000596.4
p.A39P
c.115G>C
1 paper
NM_000596.4
p.C57C
c.171C>T
2 papers
NM_000596.4
p.C60S
c.178T>A
2 papers
NM_000596.4
p.C60S
c.179G>C
1 paper
NM_000596.4
p.C33C
c.99C>T
1 paper
NM_000596.4
p.A64D
c.191C>A
1 paper
NM_000596.4
p.V73M
c.217G>A
1 paper
NM_000596.4
p.V22A
c.65T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."