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.R452delFs

c.1355delC

Surrounding Variants

1 paper

NM_001146006.2

p.L491L

c.1473C>T

1 paper

NM_004970.3

p.L449R

c.1346T>G

2 papers

NM_004970.3

p.Y462Y

c.1386C>T

NM_001146006.2

p.Y500Y

c.1500C>T

1 paper

NM_004970.3

p.T442A

c.1324A>G

1 paper

NM_004970.3

p.D440A

c.1319A>C

15 papers

NM_004970.3

p.D440N

c.1318G>A

2 papers

NM_004970.3

p.L436_L439ins1

c.1308_1316dup9

1 paper

NM_004970.3

p.S466Y

c.1397C>A

1 paper

NM_004970.3

p.R467R

c.1401C>A

1 paper

NM_001146006.2

p.R507H

c.1520G>A

1 paper

NM_004970.3

p.N468_R469del2

c.1402_1406del6

1 paper

NM_004970.3

p.A434V

c.1301C>T