Varaico: Literature-Extracted Genetic Variants

KIAA0319

462 papers

RefSeq Summary

This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of th...

Pfam Domains

KIAA0319_Naa 22–107UCSCDyslexia-associated protein KIAA0319 N-terminal domain

K319L-like_PKDaa 339–424UCSCK319L-like, PKD domain

K319L-like_PKDaa 441–521UCSCK319L-like, PKD domain

K319L-like_PKDaa 533–617UCSCK319L-like, PKD domain

K319L-like_PKDaa 629–711UCSCK319L-like, PKD domain

Gene Aliases

HGNC Alias Symbol

NMIG

HGNC Alias Name

neuronal migration

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014809.4

p.Q112P

c.335A>C

Surrounding Variants

3 papers

NM_014809.4

p.L113P

c.338T>C

1 paper

NM_014809.4

p.L113Q

c.338T>A

1 paper

NM_014809.4

p.A111E

c.332C>A

1 paper

NM_001350404.2

p.Q102L

c.305A>T

1 paper

NM_014809.4

p.V107V

c.321T>A

1 paper

NM_014809.4

p.D118Y

c.352G>T

1 paper

NM_014809.4

p.R105W

c.313C>T

1 paper

NM_014809.4

p.L104P

c.311T>C

1 paper

NM_014809.4

p.L121L

c.361C>T

1 paper

NM_014809.4

p.F102L

c.306T>A

1 paper

NM_014809.4

p.G124insFs

c.370_371insTG

3 papers

NM_014809.4

p.L100P

c.299T>C