Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.S242A

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.S242A
c.724T>G
Surrounding Variants
2 papers
NM_024874.5
p.G243D
c.728G>A
1 paper
NM_024874.5
p.G243_G244delFs
c.729_732del4
1 paper
NM_024874.5
p.L237_G244del8
c.709_731del24
1 paper
NM_024874.5
p.T234I
c.701C>T
1 paper
NM_024874.5
p.T234A
c.700A>G
1 paper
NM_024874.5
p.P232T
c.694C>A
1 paper
NM_024874.5
p.G257R
c.769G>C
1 paper
NM_024874.5
p.K225insFs
c.674_675insG
1 paper
NM_024874.5
p.A259T
c.775G>A
2 papers
NM_024874.5
p.T273P
c.817A>C
1 paper
NM_024874.5
p.Q274*
c.820C>T
1 paper
NM_024874.5
p.Q279*
c.835C>T
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