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

4 papers

NM_004970.3

p.Q116H

c.348G>C

Surrounding Variants

3 papers

NM_004970.3

p.Q116E

c.346C>G

2 papers

NM_004970.3

p.A117A

c.351G>A

4 papers

NM_004970.3

p.L118V

c.352C>G

1 paper

NM_004970.3

p.L113P

c.338T>C

1 paper

NM_004970.3

p.S112N

c.335G>A

3 papers

NM_004970.3

p.E122G

c.365A>G

1 paper

NM_004970.3

p.L110R

c.329T>G

3 papers

NM_004970.3

p.L110L

c.328C>T

1 paper

NM_004970.3

p.C125G

c.373T>G

1 paper

NM_004970.3

p.G108V

c.323G>T

1 paper

NM_004970.3

p.G108D

c.323G>A

1 paper

NM_004970.3

p.G108R

c.322G>C