Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L

KIAA0319L

71 papers

Pfam Domains

KIAA0319_Naa 51–135UCSCDyslexia-associated protein KIAA0319 N-terminal domain
K319L-like_PKDaa 313–398UCSCK319L-like, PKD domain
K319L-like_PKDaa 415–495UCSCK319L-like, PKD domain
K319L-like_PKDaa 507–591UCSCK319L-like, PKD domain
K319L-like_PKDaa 603–685UCSCK319L-like, PKD domain
K319L-like_PKDaa 698–782UCSCK319L-like, PKD domain

Gene Aliases

HGNC Name

KIAA0319 like

HGNC Alias Symbols

KIAA1837; AAVR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 214 variants
3 papers
NM_024874.5
p.R777W
c.2329C>T
2 papers
NM_024874.5
p.C89insFs
c.265_266insT
2 papers
NM_024874.5
p.A173P
c.517G>C
2 papers
NM_024874.5
p.G243D
c.728G>A
2 papers
NM_024874.5
p.T273P
c.817A>C
2 papers
NM_024874.5
p.A313T
c.937G>A
2 papers
NM_024874.5
p.S420C
c.1259C>G
2 papers
NM_024874.5
p.N496D
c.1486A>G
2 papers
NM_024874.5
p.R1019Q
c.3056G>A
1 paper
NM_024874.5
p.M1I
c.3G>A
1 paper
NM_024874.5
p.K3T
c.8A>C
1 paper
NM_024874.5
p.G6R
c.16G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."