Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.R777W

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
3 papers
NM_024874.5
p.R777W
c.2329C>T
Surrounding Variants
1 paper
NM_024874.5
p.D768N
c.2302G>A
1 paper
NM_024874.5
p.T761P
c.2281A>C
1 paper
NM_024874.5
p.E757K
c.2269G>A
1 paper
NM_024874.5
p.V756A
c.2267T>C
1 paper
NM_024874.5
p.I749S
c.2246T>G
1 paper
NM_024874.5
p.H743Q
c.2229C>G
1 paper
NM_024874.5
p.H743Q
c.2229C>A
1 paper
NM_024874.5
p.G738_E739Splc
c.2214+1G>A
1 paper
NM_024874.5
p.P735L
c.2204C>T
1 paper
NM_024874.5
p.T729_E732del4
c.2185_2195del12
1 paper
NM_024874.5
p.S725N
c.2174G>A
1 paper
NM_024874.5
p.L705delFs
c.2114delA
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