Varaico: Literature-Extracted Genetic Variants

Gene:CASD1
Variant:p.S400*

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
2 papers
NM_022900.5
p.S400*
c.1199C>G
Surrounding Variants
2 papers
NM_022900.5
p.S400*
c.1199C>A
1 paper
NM_022900.5
p.L368I
c.1102T>A
1 paper
NM_022900.5
p.V361L
c.1081G>C
1 paper
NM_022900.5
p.V361L
c.1081G>T
1 paper
NM_022900.5
p.G326R
c.976G>A
1 paper
NM_022900.5
p.G326R
c.976G>C
1 paper
NM_022900.5
p.S323fs
c.967_968fs
1 paper
NM_022900.5
p.L322V
c.964T>G
1 paper
NM_022900.5
p.S323_I324delFs
c.968_971del4
2 papers
NM_022900.5
p.Q313*
c.937C>T
1 paper
NM_022900.5
p.I442V
c.1324A>G
1 paper
NM_022900.5
p.N250D
c.748A>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."