Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.A434T

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.A434T
c.1300G>A
Surrounding Variants
1 paper
NM_020764.4
p.P429_P436delFs
c.1286_1307del22
1 paper
NM_020764.4
p.D431H
c.1291G>C
1 paper
NM_020764.4
p.P429_P436del8
c.1285_1307del24
1 paper
NM_020764.4
p.S427S
c.1281C>T
1 paper
NM_020764.4
p.S427P
c.1279T>C
1 paper
NM_020764.4
p.E426delFs
c.1277_1278delCT
1 paper
NM_020764.4
p.T417M
c.1250C>T
1 paper
NM_020764.4
p.K413_L414Splc
c.1239+5G>A
1 paper
NM_020764.4
p.A451_H452delFs
c.1351_1355del5
1 paper
NM_020764.4
p.H452delFs
c.1354_1355delTG
1 paper
NM_020764.4
p.G411G
c.1233C>A
2 papers
NM_020764.4
p.Y457*
c.1371T>G
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