Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.S1298T

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.S1298T
c.3892T>A
Surrounding Variants
1 paper
NM_020764.4
p.R1305Q
c.3914G>A
1 paper
NM_020764.4
p.P1308T
c.3922C>A
2 papers
NM_020764.4
p.P1278del1
c.3832_3833delGGG
1 paper
NM_020764.4
p.P1277_P1278del2
c.3829_3833del6
1 paper
NM_020764.4
p.P1277_P1278del1
c.3831_3833delGGC
1 paper
NM_020764.4
p.L1321P
c.3962T>C
1 paper
NM_020764.4
p.P1325A
c.3973C>G
1 paper
NM_020764.4
p.P1331H
c.3992C>A
1 paper
NM_020764.4
p.V1260G
c.3779T>G
1 paper
NM_020764.4
p.A1353_A1355ins1
c.4059_4064dup6
1 paper
NM_020764.4
p.A1354_A1355del1
c.4062_4064delGCG
2 papers
NM_020764.4
p.A1352_A1355del0
c.4056_4064del9
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