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.C397Y

c.1190G>A

Surrounding Variants

3 papers

NM_004970.3

p.C397_L398insFs

c.1191_1192insG

1 paper

NM_004970.3

p.L398V

c.1192C>G

3 papers

NM_004970.3

p.G399R

c.1195G>C

3 papers

NM_004970.3

p.G399R

c.1195G>A

1 paper

NM_004970.3

p.G395S

c.1183G>A

1 paper

NM_004970.3

p.E394*

c.1180G>T

1 paper

NM_004970.3

p.E394K

c.1180G>A

1 paper

NM_004970.3

p.R400R

c.1200C>A

1 paper

NM_004970.3

p.F382_H392del0

c.1146_1175del30

1 paper

NM_001146006.2

p.R440L

c.1319G>T

1 paper

NM_001146006.2

p.R440H

c.1319G>A

1 paper

NM_004970.3

p.S390T

c.1169G>C