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.S338_D341del0

c.1012_1023del12

Surrounding Variants

1 paper

NM_014809.4

p.G340insFs

c.1018_1019insT

1 paper

NM_014809.4

p.A339T

c.1015G>A

1 paper

NM_014809.4

p.L347F

c.1041A>C

1 paper

NM_014809.4

p.P348L

c.1043C>T

1 paper

NM_014809.4

p.K333R

c.998A>G

3 papers

NM_014809.4

p.E353K

c.1057G>A

1 paper

NM_014809.4

p.D349_E353delFs

c.1045_1057del13

1 paper

NM_014809.4

p.F357L

c.1069T>C

1 paper

NM_014809.4

p.A359T

c.1075G>A

1 paper

NM_014809.4

p.A361A

c.1083G>A

1 paper

NM_014809.4

p.E365Splc

c.1093+2T>A

1 paper

NM_014809.4

p.E365K

c.1093G>A