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.S517delFs

c.1549_1550delGA

Surrounding Variants

1 paper

NM_004970.3

p.S517fs

c.1549_1550fs

2 papers

NM_004970.3

p.R519W

c.1555C>T

1 paper

NM_004970.3

p.L518_R519delFs

c.1554_1557del4

2 papers

NM_004970.3

p.R514S

c.1542G>T

2 papers

NM_004970.3

p.R514S

c.1542G>C

1 paper

NM_004970.3

p.R514W

c.1540A>T

4 papers

NM_004970.3

p.R514G

c.1540A>G

1 paper

NM_004970.3

p.T522T

c.1566G>A

1 paper

NM_004970.3

p.P523P

c.1569G>A

1 paper

NM_004970.3

p.Q524H

c.1572G>T

3 papers

NM_004970.3

p.P525S

c.1573C>T

1 paper

NM_004970.3

p.P525A

c.1573C>G