Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.K782E

CASKIN1

103 papers

Pfam Domains

Ank_2aa 7–112UCSCAnkyrin repeats (3 copies)
Ank_2aa 98–175UCSCAnkyrin repeats (3 copies)
Ank_2aa 169–251UCSCAnkyrin repeats (3 copies)
SH3_2aa 286–342UCSCVariant SH3 domain
Caskin1-CIDaa 373–421UCSCCaskin1 CASK-interaction domain
SAM_1aa 470–533UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

CASK interacting protein 1

HGNC Alias Symbols

KIAA1306; ANKS5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020764.4
p.K782E
c.2344A>G
Surrounding Variants
1 paper
NM_020764.4
p.R784*
c.2350C>T
1 paper
NM_020764.4
p.V766F
c.2296G>T
1 paper
NM_020764.4
p.L811P
c.2432T>C
1 paper
NM_020764.4
p.P813L
c.2438C>T
1 paper
NM_020764.4
p.P813Q
c.2438C>A
1 paper
NM_020764.4
p.G748S
c.2242G>A
1 paper
NM_020764.4
p.R743Q
c.2228G>A
1 paper
NM_020764.4
p.P738L
c.2213C>T
1 paper
NM_020764.4
p.P720L
c.2159C>T
1 paper
NM_020764.4
p.A852V
c.2555C>T
1 paper
NM_020764.4
p.S706L
c.2117C>T
1 paper
NM_020764.4
p.A859V
c.2576C>T
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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."