Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319L
Variant:p.S67P

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.S67P
c.199T>C
Surrounding Variants
1 paper
NM_024874.5
p.W74*
c.221G>A
1 paper
NM_024874.5
p.W74*
c.222G>A
1 paper
NM_024874.5
p.Q55delFs
c.163delG
1 paper
NM_024874.5
p.P80P
c.240C>T
1 paper
NM_024874.5
p.T79_L82delFs
c.237_244del8
1 paper
NM_024874.5
p.S84*
c.251C>G
1 paper
NM_024874.5
p.S84*
c.251C>A
1 paper
NM_024874.5
p.A49V
c.146C>T
1 paper
NM_024874.5
p.D48N
c.142G>A
2 papers
NM_024874.5
p.C89insFs
c.265_266insT
1 paper
NM_024874.5
p.Q91P
c.272A>C
1 paper
NM_024874.5
p.D92G
c.275A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."