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.E365K

c.1093G>A

Surrounding Variants

1 paper

NM_014809.4

p.T367insFs

c.1101dupC

1 paper

NM_014809.4

p.Y370_E371insTG

c.1108_1112ins6

1 paper

NM_014809.4

p.N373Y

c.1117A>T

1 paper

NM_014809.4

p.N373S

c.1118A>G

1 paper

NM_014809.4

p.I375T

c.1124T>C

1 paper

NM_014809.4

p.D380H

c.1138G>C

1 paper

NM_014809.4

p.Y381*

c.1143C>G

1 paper

NM_014809.4

p.Y381*

c.1143C>A

1 paper

NM_014809.4

p.G383R

c.1147G>C

1 paper

NM_014809.4

p.N394T

c.1181A>C

1 paper

NM_014809.4

p.Q397_L398Splc

c.1191+2T>G

1 paper

NM_014809.4

p.Q397_L398Splc

c.1191+5G>C