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.T145M

c.434C>T

Surrounding Variants

6 papers

NM_004970.3

p.T145K

c.434C>A

2 papers

NM_004970.3

p.T145T

c.435G>C

2 papers

NM_004970.3

p.T145P

c.433A>C

4 papers

NM_004970.3

p.F142_A143delFs

c.424_427del4

1 paper

NM_004970.3

p.A149V

c.446C>T

2 papers

NM_004970.3

p.A149A

c.447C>A

1 paper

NM_001146006.2

p.S188S

c.564G>A

1 paper

NM_004970.3

p.G140S

c.418G>A

1 paper

NM_004970.3

p.S136N

c.407G>A

1 paper

NM_004970.3

p.R135C

c.403C>T

15 papers

NM_004970.3

p.L134Q

c.401T>A

1 paper

NM_004970.3

p.R157H

c.470G>A