Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.C955del1

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
Selected Variant
1 paper
NM_024874.5
p.C955del1
c.2863_2864delACA
Surrounding Variants
1 paper
NM_024874.5
p.W949C
c.2847G>T
1 paper
NM_024874.5
p.I940del1
c.2818_2820delAAT
1 paper
NM_024874.5
p.E927Splc
c.2780-1G>T
1 paper
NM_024874.5
p.G922insFs
c.2765dupG
1 paper
NM_024874.5
p.E912K
c.2734G>A
1 paper
NM_024874.5
p.R903H
c.2708G>A
1 paper
NM_024874.5
p.K902T
c.2705A>C
1 paper
NM_024874.5
p.T901S
c.2702C>G
1 paper
NM_024874.5
p.T901S
c.2701A>T
1 paper
NM_024874.5
p.S892S
c.2676C>T
1 paper
NM_024874.5
p.K959E
c.2875A>G
1 paper
NM_024874.5
p.D975H
c.2923G>C
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