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.H314R

c.941A>G

Surrounding Variants

1 paper

NM_004970.3

p.K311_D312del2

c.931_935del6

1 paper

NM_004970.3

p.D312delins

c.934_936delinsTGA

1 paper

NM_004970.3

p.F315_L316delFs

c.945_946delGG

1 paper

NM_004970.3

p.L316L

c.948G>A

1 paper

NM_004970.3

p.E317G

c.950A>G

1 paper

NM_004970.3

p.E318G

c.953A>G

8 papers

NM_004970.3

p.Q320*

c.958C>T

1 paper

NM_004970.3

p.P307P

c.921C>G

2 papers

NM_004970.3

p.P307L

c.920C>T

1 paper

NM_004970.3

p.R306R

c.918G>C

1 paper

NM_004970.3

p.G322insFs

c.965_966insC

1 paper

NM_004970.3

p.N300_S304delFs

c.899_911del13