Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.R932C

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.R932C
c.2794C>T
Surrounding Variants
1 paper
NM_020764.4
p.R939Q
c.2816G>A
1 paper
NM_020764.4
p.R916H
c.2747G>A
1 paper
NM_020764.4
p.D896N
c.2686G>A
1 paper
NM_020764.4
p.E894E
c.2682G>A
1 paper
NM_020764.4
p.S891N
c.2672G>A
2 papers
NM_020764.4
p.A887V
c.2660C>T
1 paper
NM_020764.4
p.Q982*
c.2944C>T
1 paper
NM_020764.4
p.R879P
c.2636G>C
1 paper
NM_020764.4
p.K878T
c.2633A>C
1 paper
NM_020764.4
p.G991S
c.2971G>A
1 paper
NM_020764.4
p.A859V
c.2576C>T
1 paper
NM_020764.4
p.A1005T
c.3013G>A
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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."