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

2 papers

NM_014809.4

p.S133P

c.397T>C

Surrounding Variants

1 paper

NM_014809.4

p.P134S

c.400C>T

1 paper

NM_014809.4

p.W130*

c.390G>A

1 paper

NM_014809.4

p.G124_W130del0

c.372_389del18

1 paper

NM_014809.4

p.D136H

c.406G>C

1 paper

NM_014809.4

p.I137F

c.409A>T

2 papers

NM_014809.4

p.R138K

c.413G>A

2 papers

NM_014809.4

p.P126T

c.376C>A

1 paper

NM_014809.4

p.D140_L141del1

c.419_421delAGT

1 paper

NM_014809.4

p.G124insFs

c.370_371insTG

3 papers

NM_001168376.2

p.T97P

c.289A>C

NM_001350404.2

p.T136P

c.406A>C

NM_014809.4

p.T142P

c.424A>C

1 paper

NM_014809.4

p.L121L

c.361C>T

1 paper

NM_001168376.2

p.D102V

c.305A>T