Varaico: Literature-Extracted Genetic Variants

Gene:CASKIN1
Variant:p.T512R

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
2 papers
NM_020764.4
p.T512R
c.1535C>G
Surrounding Variants
1 paper
NM_020764.4
p.A513T
c.1537G>A
1 paper
NM_020764.4
p.G515V
c.1544G>T
1 paper
NM_020764.4
p.G520D
c.1559G>A
1 paper
NM_020764.4
p.R522W
c.1564C>T
1 paper
NM_020764.4
p.K523E
c.1567A>G
1 paper
NM_020764.4
p.A526V
c.1577C>T
1 paper
NM_020764.4
p.R505H
c.1514G>A
1 paper
NM_020764.4
p.A496T
c.1486G>A
1 paper
NM_020764.4
p.Y489C
c.1466A>G
1 paper
NM_020764.4
p.A483V
c.1448C>T
1 paper
NM_020764.4
p.V477M
c.1429G>A
1 paper
NM_020764.4
p.E475Q
c.1423G>C
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