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

1–12 of 317 variants

3 papers

NM_014809.4

p.M1I

c.3G>A

3 papers

NM_014809.4

p.L100P

c.299T>C

3 papers

NM_014809.4

p.L113P

c.338T>C

3 papers

NM_014809.4

p.S264T

c.790T>A

3 papers

NM_014809.4

p.E353K

c.1057G>A

3 papers

NM_014809.4

p.V409A

c.1226T>C

3 papers

NM_014809.4

p.E417*

c.1249G>T

2 papers

NM_014809.4

p.T5insFs

c.14dupC

2 papers

NM_014809.4

p.G19S

c.55G>A

2 papers

NM_014809.4

p.R47Q

c.140G>A

2 papers

NM_014809.4

p.R76S

c.226C>A

2 papers

NM_014809.4

p.P126T

c.376C>A