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.K91R

c.272A>G

Surrounding Variants

1 paper

NM_014809.4

p.K91delFs

c.271delT

1 paper

NM_014809.4

p.P90S

c.268C>T

1 paper

NM_014809.4

p.P95S

c.283C>T

1 paper

NM_014809.4

p.E86Q

c.256G>C

1 paper

NM_014809.4

p.S98P

c.292T>C

3 papers

NM_014809.4

p.L100P

c.299T>C

1 paper

NM_014809.4

p.F102L

c.306T>A

1 paper

NM_014809.4

p.L104P

c.311T>C

1 paper

NM_014809.4

p.R105W

c.313C>T

1 paper

NM_014809.4

p.R76delFs

c.228delG

1 paper

NM_014809.4

p.R76H

c.227G>A

2 papers

NM_014809.4

p.R76S

c.226C>A