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.L8L

c.24C>T

Surrounding Variants

1 paper

NM_014809.4

p.S9insFs

c.25_26insC

1 paper

NM_014809.4

p.L8H

c.23T>A

1 paper

NM_014809.4

p.G6insFs

c.17dupG

1 paper

NM_014809.4

p.G6delFs

c.16delC

1 paper

NM_014809.4

p.S10delFs

c.29delG

1 paper

NM_014809.4

p.L11S

c.32T>C

1 paper

NM_014809.4

p.T5T

c.15A>T

2 papers

NM_014809.4

p.T5insFs

c.14dupC

1 paper

NM_014809.4

p.T5fs

c.13_14fs

1 paper

NM_014809.4

p.T5P

c.13A>C

1 paper

NM_014809.4

p.P4insFs

c.12dupC

1 paper

NM_014809.4

p.L14L

c.40C>T