Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.P322R

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.P322R
c.965C>G
Surrounding Variants
1 paper
NM_024874.5
p.K323E
c.967A>G
1 paper
NM_024874.5
p.T320I
c.959C>T
1 paper
NM_024874.5
p.Q327*
c.979C>T
1 paper
NM_024874.5
p.S316R
c.948T>G
1 paper
NM_024874.5
p.S316R
c.948T>A
1 paper
NM_024874.5
p.S316C
c.946A>T
1 paper
NM_024874.5
p.S316R
c.946A>C
1 paper
NM_024874.5
p.A330T
c.988G>A
1 paper
NM_024874.5
p.Y331H
c.991T>C
2 papers
NM_024874.5
p.A313T
c.937G>A
1 paper
NM_024874.5
p.S312Y
c.935C>A
1 paper
NM_024874.5
p.V311I
c.931G>A
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