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.L289P

c.866T>C

Surrounding Variants

1 paper

NM_004970.3

p.L289Q

c.866T>A

1 paper

NM_004970.3

p.G288A

c.863G>C

7 papers

NM_004970.3

p.P287L

c.860C>T

1 paper

NM_001146006.2

p.T323_F324delFs

c.969_970delAC

1 paper

NM_004970.3

p.L292insFs

c.875_876insT

1 paper

NM_004970.3

p.R293C

c.877C>T

1 paper

NM_004970.3

p.T285M

c.854C>T

1 paper

NM_004970.3

p.R293R

c.879T>A

1 paper

NM_004970.3

p.N300I

c.899A>T

1 paper

NM_004970.3

p.A301S

c.901G>T

1 paper

NM_004970.3

p.A301T

c.901G>A

2 papers

NM_004970.3

p.R277H

c.830G>A