Varaico: Literature-Extracted Genetic Variants

Gene:CCSAP
Variant:p.L124_V126delFs

CCSAP

15 papers

Pfam Domains

CCSAPaa 7–269UCSCCentriole, cilia and spindle-associated

Gene Aliases

HGNC Name

centriole, cilia and spindle associated protein

HGNC Previous Symbol

C1orf96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145257.5
p.L124_V126delFs
c.370_376del7
Surrounding Variants
1 paper
NM_145257.5
p.V126delFs
c.378delC
1 paper
NM_145257.5
p.L124fs
c.370_371fs
1 paper
NM_145257.5
p.D128fs
c.382_383fs
1 paper
NM_145257.5
p.E130Q
c.388G>C
1 paper
NM_145257.5
p.R164G
c.490A>G
1 paper
NM_145257.5
p.G188D
c.563G>A
1 paper
NM_145257.5
p.T196I
c.587C>T
1 paper
NM_145257.5
p.H202N
c.604C>A
1 paper
NM_145257.5
p.E212K
c.634G>A
1 paper
NM_145257.5
p.A238P
c.712G>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."