Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.P141L

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.P141L
c.422C>T
Surrounding Variants
1 paper
NM_020764.4
p.N140K
c.420C>G
1 paper
NM_020764.4
p.N140K
c.420C>A
1 paper
NM_020764.4
p.D145V
c.434A>T
1 paper
NM_020764.4
p.M143_N146delFs
c.429_436del8
1 paper
NM_020764.4
p.E157*
c.469G>T
1 paper
NM_020764.4
p.G159A
c.476G>C
1 paper
NM_020764.4
p.V130_S131Splc
c.390+18G>A
2 papers
NM_020764.4
p.I117T
c.350T>C
1 paper
NM_020764.4
p.P111L
c.332C>T
1 paper
NM_020764.4
p.P111Q
c.332C>A
1 paper
NM_020764.4
p.D186N
c.556G>A
2 papers
NM_020764.4
p.D203N
c.607G>A
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