Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.S420C

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
2 papers
NM_024874.5
p.S420C
c.1259C>G
Surrounding Variants
1 paper
NM_024874.5
p.S420T
c.1258T>A
1 paper
NM_024874.5
p.T423I
c.1268C>T
1 paper
NM_024874.5
p.S425F
c.1274C>T
1 paper
NM_024874.5
p.Q432*
c.1294C>T
1 paper
NM_024874.5
p.R406delFs
c.1218delC
1 paper
NM_024874.5
p.R406W
c.1216C>T
1 paper
NM_024874.5
p.R403H
c.1208G>A
1 paper
NM_024874.5
p.Q432*
c.1294C>T
1 paper
NM_024874.5
p.T434A
c.1300A>G
1 paper
NM_024874.5
p.V440I
c.1318G>A
1 paper
NM_024874.5
p.Q441H
c.1323G>T
1 paper
NM_024874.5
p.Q441H
c.1323G>C
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