Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.L1007P

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.L1007P
c.3020T>C
Surrounding Variants
1 paper
NM_024874.5
p.R1019*
c.3055C>T
2 papers
NM_024874.5
p.R1019Q
c.3056G>A
1 paper
NM_024874.5
p.G1022R
c.3064G>C
1 paper
NM_024874.5
p.G1030A
c.3089G>C
1 paper
NM_024874.5
p.S1031F
c.3092C>T
1 paper
NM_024874.5
p.Q1036*
c.3106C>T
1 paper
NM_024874.5
p.R1045P
c.3134G>C
1 paper
NM_024874.5
p.R1045Q
c.3134G>A
1 paper
NM_024874.5
p.D975H
c.2923G>C
1 paper
NM_024874.5
p.K959E
c.2875A>G
1 paper
NM_024874.5
p.C955del1
c.2863_2864delACA
1 paper
NM_024874.5
p.W949C
c.2847G>T
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