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.R375R

c.1125G>A

Surrounding Variants

1 paper

NM_004970.3

p.N376D

c.1126A>G

1 paper

NM_004970.3

p.L377H

c.1130T>A

1 paper

NM_004970.3

p.P378S

c.1132C>T

1 paper

NM_004970.3

p.P378L

c.1133C>T

1 paper

NM_004970.3

p.N368_S370del0

c.1103_1108del6

1 paper

NM_004970.3

p.V381E

c.1142T>A

1 paper

NM_004970.3

p.R383W

c.1147C>T

2 papers

NM_004970.3

p.N368insFs

c.1103_1104insC

1 paper

NM_004970.3

p.N368insFs

c.1102_1103insC

1 paper

NM_004970.3

p.G384R

c.1150G>C

1 paper

NM_004970.3

p.G384fs

c.1150_1151fs

1 paper

NM_004970.3

p.G384delFs

c.1150delC