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.L201P

c.602T>C

Surrounding Variants

1 paper

NM_004970.3

p.V200V

c.600G>C

1 paper

NM_004970.3

p.V200M

c.598G>A

2 papers

NM_004970.3

p.S195_R197ins1

c.583_591dup9

1 paper

NM_004970.3

p.R197H

c.590G>A

1 paper

NM_004970.3

p.R205S

c.615G>C

3 papers

NM_004970.3

p.R197C

c.589C>T

1 paper

NM_004970.3

p.Y208N

c.622T>A

1 paper

NM_004970.3

p.L209L

c.625C>T

1 paper

NM_004970.3

p.G192D

c.575G>A

1 paper

NM_004970.3

p.Q210H

c.630G>T

1 paper

NM_004970.3

p.Q210H

c.630G>C

1 paper

NM_004970.3

p.R191H

c.572G>A