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.G506R

c.1516G>C

Surrounding Variants

1 paper

NM_004970.3

p.G506R

c.1516G>A

1 paper

NM_004970.3

p.R507Q

c.1520G>A

2 papers

NM_004970.3

p.R507insFs

c.1521dupG

2 papers

NM_004970.3

p.A503insFs

c.1509dupA

1 paper

NM_004970.3

p.A503V

c.1508C>T

1 paper

NM_004970.3

p.A503G

c.1508C>G

1 paper

NM_004970.3

p.A503S

c.1507G>T

1 paper

NM_004970.3

p.R509H

c.1526G>A

1 paper

NM_004970.3

p.Y510H

c.1528T>C

1 paper

NM_004970.3

p.P498L

c.1493C>T

1 paper

NM_004970.3

p.P498S

c.1492C>T

1 paper

NM_004970.3

p.R514W

c.1540A>T