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

2 papers

NM_004970.3

p.L127fs

c.379_380fs

Surrounding Variants

1 paper

NM_004970.3

p.L127L

c.379C>T

7 papers

NM_004970.3

p.L127P

c.380T>C

1 paper

NM_004970.3

p.C125delFs

c.375delG

1 paper

NM_004970.3

p.H128Q

c.384C>G

1 paper

NM_004970.3

p.H128Q

c.384C>A

1 paper

NM_004970.3

p.C125G

c.373T>G

1 paper

NM_004970.3

p.L129P

c.386T>C

1 paper

NM_004970.3

p.E130V

c.389A>T

1 paper

NM_004970.3

p.R131W

c.391C>T

1 paper

NM_004970.3

p.R131G

c.391C>G

3 papers

NM_004970.3

p.E122G

c.365A>G

1 paper

NM_004970.3

p.N132fs

c.394_395fs