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.S244L

c.731C>T

Surrounding Variants

1 paper

NM_014809.4

p.V247M

c.739G>A

2 papers

NM_014809.4

p.E249Q

c.745G>C

1 paper

NM_014809.4

p.P239S

c.715C>T

1 paper

NM_014809.4

p.E251*

c.751G>T

1 paper

NM_014809.4

p.E251A

c.752A>C

1 paper

NM_014809.4

p.P237S

c.709C>T

1 paper

NM_014809.4

p.S254P

c.760T>C

1 paper

NM_014809.4

p.E231_S233del0

c.691_699del9

1 paper

NM_014809.4

p.Q255*

c.763C>T

1 paper

NM_014809.4

p.Q257*

c.769C>T

1 paper

NM_014809.4

p.L256delFs

c.768delG

1 paper

NM_014809.4

p.E231K

c.691G>A