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

1–12 of 393 variants

21 papers

NM_004970.3

p.P525L

c.1574C>T

16 papers

NM_004970.3

p.N276S

c.827A>G

15 papers

NM_004970.3

p.L134Q

c.401T>A

15 papers

NM_004970.3

p.D440N

c.1318G>A

12 papers

NM_004970.3

p.L172F

c.514C>T

12 papers

NM_004970.3

p.C540R

c.1618T>C

11 papers

NM_004970.3

p.P73L

c.218C>T

10 papers

NM_004970.3

p.C60S

c.178T>A

10 papers

NM_004970.3

p.C60S

c.179G>C

9 papers

NM_004970.3

p.L241P

c.722T>C

9 papers

NM_004970.3

p.L244F

c.730C>T

8 papers

NM_004970.3

p.Q320*

c.958C>T