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.S48R

c.142A>C

Surrounding Variants

2 papers

NM_004970.3

p.Y49F

c.146A>T

4 papers

NM_004970.3

p.Y49C

c.146A>G

2 papers

NM_004970.3

p.V46D

c.137T>A

1 paper

NM_004970.3

p.Y49*

c.147C>A

2 papers

NM_004970.3

p.D50H

c.148G>C

2 papers

NM_004970.3

p.D50N

c.148G>A

1 paper

NM_004970.3

p.D51N

c.151G>A

1 paper

NM_004970.3

p.A44_C45insFs

c.132_133insTT

2 papers

NM_004970.3

p.D51V

c.152A>T

1 paper

NM_004970.3

p.D52N

c.154G>A

1 paper

NM_004970.3

p.A43fs

c.127_128fs

1 paper

NM_004970.3

p.A43V

c.128C>T