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.W72*

c.216G>A

Surrounding Variants

1 paper

NM_014809.4

p.W72*

c.215G>A

1 paper

NM_014809.4

p.F73C

c.218T>G

1 paper

NM_014809.4

p.D68_A70del3

c.202_209del9

1 paper

NM_014809.4

p.A70V

c.209C>T

1 paper

NM_014809.4

p.G75D

c.224G>A

2 papers

NM_014809.4

p.R76S

c.226C>A

1 paper

NM_014809.4

p.R76H

c.227G>A

1 paper

NM_014809.4

p.R76delFs

c.228delG

1 paper

NM_014809.4

p.D68N

c.202G>A

1 paper

NM_014809.4

p.S66N

c.197G>A

1 paper

NM_014809.4

p.C57_S65delFs

c.171_193del23

1 paper

NM_014809.4

p.L64P

c.191T>C