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.Q24_T30delFs

c.70_89del20

Surrounding Variants

1 paper

NM_014809.4

p.Y31H

c.91T>C

1 paper

NM_014809.4

p.N33I

c.98A>T

1 paper

NM_014809.4

p.A34V

c.101C>T

1 paper

NM_014809.4

p.V35V

c.105C>A

1 paper

NM_014809.4

p.C25_S26insC

c.73_77ins3

1 paper

NM_014809.4

p.K23_Q24del1

c.68_70delGCT

1 paper

NM_014809.4

p.K23T

c.68A>C

1 paper

NM_014809.4

p.A21insFs

c.63dupC

1 paper

NM_014809.4

p.G19V

c.56G>T

1 paper

NM_014809.4

p.G19D

c.56G>A

1 paper

NM_014809.4

p.T43A

c.127A>G

1 paper

NM_014809.4

p.R47W

c.139C>T