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

Selected Variant

1 paper

NM_000596.4

p.E218V

c.653A>T

Surrounding Variants

1 paper

NM_000596.4

p.Q216_C217Splc

c.649-3C>G

1 paper

NM_000596.4

p.G223V

c.668G>T

2 papers

NM_000596.4

p.E224D

c.672G>C

2 papers

NM_000596.4

p.E224D

c.672G>T

1 paper

NM_000596.4

p.W234C

c.702G>C

1 paper

NM_000596.4

p.P240L

c.719C>T

1 paper

NM_000596.4

p.P243ins4

c.728_729ins12

1 paper

NM_000596.4

p.P243R

c.728C>G

2 papers

NM_000596.4

p.E244K

c.730G>A

12 papers

NM_000596.4

p.I253M

c.759A>G

1 paper

NM_000596.4

p.Y254H

c.760T>C

1 paper

NM_000596.4

p.Q216_C217Splc

c.648+2T>G