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.L340F

c.1018C>T

Surrounding Variants

1 paper

NM_004970.3

p.G338Fs

c.1012_1013delinsCFs

1 paper

NM_004970.3

p.L337L

c.1009C>T

1 paper

NM_004970.3

p.G336D

c.1007G>A

2 papers

NM_004970.3

p.T344A

c.1030A>G

2 papers

NM_004970.3

p.A330D

c.989C>A

1 paper

NM_004970.3

p.L329insFs

c.985_986insAC

1 paper

NM_004970.3

p.R325insFs

c.973dupC

1 paper

NM_004970.3

p.N324S

c.971A>G

1 paper

NM_004970.3

p.G322insFs

c.965_966insC

8 papers

NM_004970.3

p.Q320*

c.958C>T

1 paper

NM_004970.3

p.L361L

c.1083C>T

1 paper

NM_004970.3

p.E318G

c.953A>G