Varaico: Literature-Extracted Genetic Variants

Gene:CASD1
Variant:p.L652_T653Splc

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.L652_T653Splc
c.1956+2T>A
Surrounding Variants
1 paper
NM_022900.5
p.S647L
c.1940C>T
1 paper
NM_022900.5
p.N641S
c.1922A>G
1 paper
NM_022900.5
p.A619A
c.1857T>C
1 paper
NM_022900.5
p.D603H
c.1807G>C
1 paper
NM_022900.5
p.R686K
c.2057G>A
1 paper
NM_022900.5
p.P689H
c.2066C>A
1 paper
NM_022900.5
p.R693H
c.2078G>A
1 paper
NM_022900.5
p.A701S
c.2101G>T
1 paper
NM_022900.5
p.A701V
c.2102C>T
1 paper
NM_022900.5
p.W702S
c.2105G>C
1 paper
NM_022900.5
p.W702L
c.2105G>T
1 paper
NM_022900.5
p.W702C
c.2106G>C
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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."