Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.P502A

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.P502A
c.1504C>G
Surrounding Variants
1 paper
NM_024874.5
p.P502T
c.1504C>A
1 paper
NM_024874.5
p.D500A
c.1499A>C
2 papers
NM_024874.5
p.N496D
c.1486A>G
1 paper
NM_024874.5
p.T494R
c.1481C>G
1 paper
NM_024874.5
p.N510H
c.1528A>C
1 paper
NM_024874.5
p.A491S
c.1471G>T
1 paper
NM_024874.5
p.T514I
c.1541C>T
1 paper
NM_024874.5
p.Q517P
c.1550A>C
1 paper
NM_024874.5
p.T521P
c.1561A>C
1 paper
NM_024874.5
p.T521N
c.1562C>A
1 paper
NM_024874.5
p.I520_T521ins0
c.1558_1563dup6
1 paper
NM_024874.5
p.T528I
c.1583C>T
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