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.S226I

c.677G>T

Surrounding Variants

1 paper

NM_004970.3

p.N228N

c.684C>T

1 paper

NM_004970.3

p.A229T

c.685G>A

1 paper

NM_004970.3

p.L223P

c.668T>C

1 paper

NM_004970.3

p.R231W

c.691C>T

1 paper

NM_004970.3

p.L220P

c.659T>C

1 paper

NM_004970.3

p.L220F

c.658C>T

1 paper

NM_004970.3

p.L220I

c.658C>A

1 paper

NM_004970.3

p.E219K

c.655G>A

1 paper

NM_001146006.2

p.A256A

c.768C>G

1 paper

NM_001146006.2

p.A256fs

c.766_767fs

1 paper

NM_001146006.2

p.L255insFs

c.764_765insT

1 paper

NM_004970.3

p.L217R

c.650T>G