Varaico: Literature-Extracted Genetic Variants

Gene:CASD1
Variant:p.V523I

CASD1

66 papers

Pfam Domains

NXPE4_Caa 64–158UCSCNXPE family member 4-like, C-terminal domain
Cas1_AcylTaa 295–776UCSC10 TM Acyl Transferase domain found in Cas1p

Gene Aliases

HGNC Name

CAS1 domain sialic acid O acetyltransferase 1

HGNC Alias Symbols

FLJ21213; FLJ21879; C7orf12; Cas1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022900.5
p.V523I
c.1567G>A
Surrounding Variants
1 paper
NM_022900.5
p.S477*
c.1430C>A
1 paper
NM_022900.5
p.S477*
c.1430C>G
2 papers
NM_022900.5
p.V456V
c.1368A>G
1 paper
NM_022900.5
p.W549S
c.1646G>C
1 paper
NM_022900.5
p.L560delFs
c.1679delT
1 paper
NM_022900.5
p.A568T
c.1702G>A
1 paper
NM_022900.5
p.D603H
c.1807G>C
1 paper
NM_022900.5
p.A619A
c.1857T>C
1 paper
NM_022900.5
p.N641S
c.1922A>G
1 paper
NM_022900.5
p.S647L
c.1940C>T
1 paper
NM_022900.5
p.L652_T653Splc
c.1956+2T>A
1 paper
NM_022900.5
p.I442V
c.1324A>G
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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."