Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.S209F

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.S209F
c.626C>T
Surrounding Variants
1 paper
NM_024874.5
p.N207H
c.619A>C
1 paper
NM_024874.5
p.D194V
c.581A>T
1 paper
NM_024874.5
p.S191N
c.572G>A
1 paper
NM_024874.5
p.L186R
c.557T>G
1 paper
NM_024874.5
p.L182S
c.545T>C
1 paper
NM_024874.5
p.Q179R
c.536A>G
1 paper
NM_024874.5
p.S175F
c.524C>T
2 papers
NM_024874.5
p.A173P
c.517G>C
1 paper
NM_024874.5
p.K133I
c.398A>T
1 paper
NM_024874.5
p.L131*
c.392T>G
1 paper
NM_024874.5
p.L131*
c.392T>A
1 paper
NM_024874.5
p.V129L
c.385G>C
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