Varaico: Literature-Extracted Genetic Variants

Gene:CAPSL
Variant:p.I116_Q118del0

CAPSL

28 papers

Pfam Domains

EF-hand_7aa 41–102UCSCEF-hand domain pair
EF-hand_7aa 113–186UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calcyphosine like

HGNC Alias Symbol

MGC26610

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042625.2
p.I116_Q118del0
c.346_354del9
Surrounding Variants
1 paper
NM_001042625.2
p.V130F
c.388G>T
1 paper
NM_001042625.2
p.P106L
c.317C>T
1 paper
NM_001042625.2
p.E134K
c.400G>A
1 paper
NM_001042625.2
p.V139A
c.416T>C
1 paper
NM_001042625.2
p.A142fs
c.424_425fs
1 paper
NM_001042625.2
p.L163M
c.487C>A
1 paper
NM_001042625.2
p.N165D
c.493A>G
1 paper
NM_001042625.2
p.Y170N
c.508T>A
1 paper
NM_001042625.2
p.G91E
c.272G>A
1 paper
NM_001042625.2
p.D88N
c.262G>A
4 papers
NM_001042625.2
p.R85Q
c.254G>A
1 paper
NM_001042625.2
p.L83F
c.247C>T
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