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

12 papers

NM_001553.3

p.K95R

c.284A>G

Surrounding Variants

1 paper

NM_001553.3

p.K97R

c.290A>G

1 paper

NM_001553.3

p.A98G

c.293C>G

1 paper

NM_001553.3

p.S90R

c.268A>C

1 paper

NM_001553.3

p.G103D

c.308G>A

1 paper

NM_001553.3

p.G104S

c.310G>A

1 paper

NM_001553.3

p.G109D

c.326G>A

1 paper

NM_001553.3

p.R78fs

c.232_233fs

4 papers

NM_001553.3

p.R78G

c.232A>G

1 paper

NM_001553.3

p.P118T

c.352C>A

1 paper

NM_001553.3

p.E69G

c.206A>G

1 paper

NM_001553.3

p.E69K

c.205G>A

2 papers

NM_001553.3

p.G124S

c.370G>A