Varaico: Literature-Extracted Genetic Variants

IGFALS

932 papers

RefSeq Summary

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contain...

Pfam Domains

LRRNTaa 40–73UCSCLeucine rich repeat N-terminal domain

LRR_8aa 102–158UCSCLeucine rich repeat

LRR_8aa 146–206UCSCLeucine rich repeat

LRR_8aa 195–254UCSCLeucine rich repeat

LRR_8aa 242–302UCSCLeucine rich repeat

LRR_8aa 290–350UCSCLeucine rich repeat

Gene Aliases

HGNC Name

insulin like growth factor binding protein acid labile subunit

HGNC Previous Name

insulin-like growth factor binding protein, acid labile subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004970.3

p.T66M

c.197C>T

Surrounding Variants

2 papers

NM_004970.3

p.L68R

c.203T>G

2 papers

NM_004970.3

p.L68P

c.203T>C

1 paper

NM_004970.3

p.S62insFs

c.185_186insG

1 paper

NM_001146006.2

p.D108D

c.324T>C

1 paper

NM_004970.3

p.S62P

c.184T>C

1 paper

NM_004970.3

p.D70E

c.210T>A

2 papers

NM_004970.3

p.G71R

c.211G>C

2 papers

NM_004970.3

p.G71R

c.211G>A

1 paper

NM_004970.3

p.G71A

c.212G>C

2 papers

NM_004970.3

p.G71E

c.212G>A

1 paper

NM_004970.3

p.C60F

c.179G>T

10 papers

NM_004970.3

p.C60S

c.179G>C