Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.L131*

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.L131*
c.392T>A
Surrounding Variants
1 paper
NM_024874.5
p.L131*
c.392T>G
1 paper
NM_024874.5
p.K133I
c.398A>T
1 paper
NM_024874.5
p.V129L
c.385G>C
1 paper
NM_024874.5
p.R117W
c.349C>T
1 paper
NM_024874.5
p.M104T
c.311T>C
1 paper
NM_024874.5
p.G103R
c.307G>C
1 paper
NM_024874.5
p.G103R
c.307G>A
1 paper
NM_024874.5
p.W99C
c.297G>T
1 paper
NM_024874.5
p.W99C
c.297G>C
1 paper
NM_024874.5
p.H96L
c.287A>T
1 paper
NM_024874.5
p.D92G
c.275A>G
1 paper
NM_024874.5
p.Q91P
c.272A>C
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