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.R467R

c.1401C>A

Surrounding Variants

1 paper

NM_004970.3

p.S466Y

c.1397C>A

1 paper

NM_001146006.2

p.R507H

c.1520G>A

1 paper

NM_004970.3

p.N468_R469del2

c.1402_1406del6

1 paper

NM_004970.3

p.A471A

c.1413A>T

2 papers

NM_004970.3

p.Y462Y

c.1386C>T

NM_001146006.2

p.Y500Y

c.1500C>T

1 paper

NM_004970.3

p.P474L

c.1421C>T

2 papers

NM_004970.3

p.P474insFs

c.1421_1422insGT

2 papers

NM_004970.3

p.A475V

c.1424C>T

1 paper

NM_004970.3

p.D476N

c.1426G>A

1 paper

NM_001146006.2

p.A515V

c.1544C>T

1 paper

NM_004970.3

p.G479D

c.1436G>A

1 paper

NM_001146006.2

p.L491L

c.1473C>T