Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.Q982*

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.Q982*
c.2944C>T
Surrounding Variants
1 paper
NM_020764.4
p.G991S
c.2971G>A
1 paper
NM_020764.4
p.A1005T
c.3013G>A
1 paper
NM_020764.4
p.G1017R
c.3049G>C
1 paper
NM_020764.4
p.G1017A
c.3050G>C
1 paper
NM_020764.4
p.R1018Q
c.3053G>A
1 paper
NM_020764.4
p.R939Q
c.2816G>A
1 paper
NM_020764.4
p.E1025D
c.3075G>T
1 paper
NM_020764.4
p.E1025D
c.3075G>C
1 paper
NM_020764.4
p.T1029S
c.3085A>T
1 paper
NM_020764.4
p.T1029S
c.3086C>G
1 paper
NM_020764.4
p.R932C
c.2794C>T
1 paper
NM_020764.4
p.V1043M
c.3127G>A
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