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

3 papers

NM_004970.3

p.N84S

c.251A>G

Surrounding Variants

1 paper

NM_004970.3

p.N84Y

c.250A>T

1 paper

NM_004970.3

p.N85I

c.254A>T

1 paper

NM_004970.3

p.G83S

c.247G>A

2 papers

NM_004970.3

p.S87L

c.260C>T

NM_001146006.2

p.S125L

c.374C>T

1 paper

NM_004970.3

p.P90_P91ins4

c.268_272ins12

1 paper

NM_004970.3

p.P90L

c.269C>T

1 paper

NM_004970.3

p.A78V

c.233C>T

1 paper

NM_004970.3

p.P91insFs

c.272dupC

1 paper

NM_004970.3

p.A92T

c.274G>A

1 paper

NM_004970.3

p.A92fs

c.274_275fs

2 papers

NM_004970.3

p.A93V

c.278C>T

1 paper

NM_004970.3

p.G74R

c.220G>C