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.L14V

c.40C>G

Surrounding Variants

1 paper

NM_004970.3

p.L14L

c.40C>T

1 paper

NM_004970.3

p.L15P

c.44T>C

2 papers

NM_004970.3

p.A11V

c.32C>T

1 paper

NM_004970.3

p.A11G

c.32C>G

1 paper

NM_004970.3

p.L10L

c.30G>C

2 papers

NM_004970.3

p.W17C

c.51G>T

1 paper

NM_004970.3

p.A11_W17delFs

c.32_50del19

4 papers

NM_004970.3

p.A9D

c.26C>A

1 paper

NM_004970.3

p.L8delFs

c.24delC

1 paper

NM_004970.3

p.L8L

c.24G>C

3 papers

NM_004970.3

p.L8Q

c.23T>A

2 papers

NM_004970.3

p.L20L

c.58C>T