Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.V469I

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.V469I
c.1405G>A
Surrounding Variants
1 paper
NM_024874.5
p.P470fs
c.1408_1409fs
1 paper
NM_024874.5
p.P470delFs
c.1409delG
1 paper
NM_024874.5
p.G471G
c.1413G>A
1 paper
NM_024874.5
p.L465Q
c.1394T>A
1 paper
NM_024874.5
p.F475I
c.1423T>A
1 paper
NM_024874.5
p.T460R
c.1379C>G
1 paper
NM_024874.5
p.T460K
c.1379C>A
1 paper
NM_024874.5
p.E454Q
c.1360G>C
1 paper
NM_024874.5
p.Y442Y
c.1326C>T
1 paper
NM_024874.5
p.Q441H
c.1323G>T
1 paper
NM_024874.5
p.Q441H
c.1323G>C
1 paper
NM_024874.5
p.V440I
c.1318G>A
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