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.R251H

c.752G>A

Surrounding Variants

1 paper

NM_004970.3

p.I254N

c.761T>A

1 paper

NM_004970.3

p.L253_I254delFs

c.759_760delTG

2 papers

NM_004970.3

p.L247_Y248delFs

c.741_742delAG

1 paper

NM_004970.3

p.A255T

c.763G>A

1 paper

NM_004970.3

p.A255insFs

c.764_765insT

1 paper

NM_004970.3

p.Q245delFs

c.733_734delTG

9 papers

NM_004970.3

p.L244F

c.730C>T

1 paper

NM_004970.3

p.A261T

c.781G>A

9 papers

NM_004970.3

p.L241P

c.722T>C

1 paper

NM_004970.3

p.L241L

c.721C>T

1 paper

NM_004970.3

p.V239E

c.716T>A

1 paper

NM_004970.3

p.V239M

c.715G>A