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.S24N

c.71G>A

Surrounding Variants

3 papers

NM_004970.3

p.P22L

c.65C>T

NM_001146006.2

p.P60L

c.179C>T

1 paper

NM_004970.3

p.G27A

c.80G>C

2 papers

NM_004970.3

p.L20L

c.58C>T

1 paper

NM_004970.3

p.D29H

c.85G>C

2 papers

NM_004970.3

p.W17C

c.51G>T

1 paper

NM_004970.3

p.P30_G31insFs

c.90_91ins4

1 paper

NM_004970.3

p.A11_W17delFs

c.32_50del19

1 paper

NM_004970.3

p.L15P

c.44T>C

1 paper

NM_004970.3

p.L14L

c.40C>T

1 paper

NM_004970.3

p.L14V

c.40C>G

3 papers

NM_004970.3

p.E35fs

c.103_104fs

4 papers

NM_004970.3

p.E35insFs

c.103dupG