Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1

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
1–12 of 153 variants
2 papers
NM_020764.4
p.I117T
c.350T>C
2 papers
NM_020764.4
p.D203N
c.607G>A
2 papers
NM_020764.4
p.P371T
c.1111C>A
2 papers
NM_020764.4
p.Y457*
c.1371T>G
2 papers
NM_020764.4
p.Y457*
c.1371T>A
2 papers
NM_020764.4
p.T512R
c.1535C>G
2 papers
NM_020764.4
p.P641L
c.1922C>T
2 papers
NM_020764.4
p.D643N
c.1927G>A
2 papers
NM_020764.4
p.E660K
c.1978G>A
2 papers
NM_020764.4
p.A688V
c.2063C>T
2 papers
NM_020764.4
p.K782E
c.2344A>G
2 papers
NM_020764.4
p.A887V
c.2660C>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."