Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.P720L

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
1 paper
NM_020764.4
p.P720L
c.2159C>T
Surrounding Variants
1 paper
NM_020764.4
p.S706L
c.2117C>T
1 paper
NM_020764.4
p.P738L
c.2213C>T
1 paper
NM_020764.4
p.R743Q
c.2228G>A
1 paper
NM_020764.4
p.G748S
c.2242G>A
1 paper
NM_020764.4
p.T690M
c.2069C>T
2 papers
NM_020764.4
p.A688V
c.2063C>T
1 paper
NM_020764.4
p.H681N
c.2041C>A
1 paper
NM_020764.4
p.V766F
c.2296G>T
1 paper
NM_020764.4
p.V671M
c.2011G>A
1 paper
NM_020764.4
p.Q662*
c.1984C>T
2 papers
NM_020764.4
p.E660K
c.1978G>A
2 papers
NM_020764.4
p.K782E
c.2344A>G
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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."