Varaico: Literature-Extracted Genetic Variants

IGFBP7

210 papers

RefSeq Summary

This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and mod...

Pfam Domains

IGFBPaa 32–87UCSCInsulin-like growth factor binding protein

Kazal_2aa 108–156UCSCKazal-type serine protease inhibitor domain

I-setaa 160–265UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

insulin like growth factor binding protein 7

HGNC Alias Symbols

MAC25; IGFBP-7; PSF; FSTL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_001553.3

p.G277Splc

c.830-1G>A

Surrounding Variants

1 paper

NM_001553.3

p.E278Q

c.832G>C

1 paper

NM_001553.3

p.G277_*283delFs

c.830_849del20

1 paper

NM_001553.3

p.S260_A261insFs

c.780_781insA

1 paper

NM_001553.3

p.G244_E245insFs

c.732_733insG

1 paper

NM_001553.3

p.L234L

c.702G>C

1 paper

NM_001553.3

p.K226*

c.676A>T

1 paper

NM_001553.3

p.G222delFs

c.666delA

1 paper

NM_001553.3

p.R221insFs

c.662_663insG

1 paper

NM_001553.3

p.H200R

c.599A>G

1 paper

NM_001553.3

p.G199D

c.596G>A

1 paper

NM_001553.3

p.V196A

c.587T>C

1 paper

NM_001553.3

p.I186F

c.556A>T