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.N580del1

c.1738_1739delGTT

Surrounding Variants

1 paper

NM_004970.3

p.P586S

c.1756C>T

2 papers

NM_004970.3

p.P586L

c.1757C>T

NM_001146006.2

p.P624L

c.1871C>T

1 paper

NM_004970.3

p.P587L

c.1760C>T

1 paper

NM_004970.3

p.V589L

c.1765G>C

2 papers

NM_004970.3

p.D570N

c.1708G>A

1 paper

NM_004970.3

p.D569N

c.1705G>A

1 paper

NM_001146006.2

p.G606V

c.1817G>T

1 paper

NM_004970.3

p.G568E

c.1703G>A

1 paper

NM_004970.3

p.G568R

c.1702G>C

1 paper

NM_004970.3

p.G568R

c.1702G>A

1 paper

NM_004970.3

p.E567fs

c.1699_1700fs

1 paper

NM_004970.3

p.S598R

c.1792A>C