Varaico: Literature-Extracted Genetic Variants

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

1–12 of 56 variants

12 papers

NM_000596.4

p.I253M

c.759A>G

5 papers

NM_000596.4

p.V44M

c.130G>A

2 papers

NM_000596.4

p.A55T

c.163G>A

2 papers

NM_000596.4

p.C60S

c.178T>A

2 papers

NM_000596.4

p.C60S

c.179G>C

2 papers

NM_000596.4

p.A142_P143delFs

c.424_427del4

2 papers

NM_000596.4

p.R177Q

c.530G>A

2 papers

NM_000596.4

p.R215G

c.643A>G

2 papers

NM_000596.4

p.E224D

c.672G>C

2 papers

NM_000596.4

p.E224D

c.672G>T

2 papers

NM_000596.4

p.E244K

c.730G>A

1 paper

NM_000596.4

p.M1T

c.2T>C