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

1–12 of 68 variants

15 papers

NM_001553.3

p.G277Splc

c.830-1G>A

12 papers

NM_001553.3

p.K95R

c.284A>G

4 papers

NM_001553.3

p.R78G

c.232A>G

3 papers

NM_001553.3

p.L11F

c.31C>T

3 papers

NM_001553.3

p.E157Q

c.469G>C

2 papers

NM_001553.3

p.G124S

c.370G>A

2 papers

NM_001553.3

p.A135T

c.403G>A

1 paper

NM_001553.3

p.M1T

c.2T>C

1 paper

NM_001553.3

p.M1K

c.2T>A

1 paper

NM_001553.3

p.A8insFs

c.23dupC

1 paper

NM_001553.3

p.L10P

c.29T>C

1 paper

NM_001553.3

p.L11L

c.33C>A