Varaico: Literature-Extracted Genetic Variants

Gene:CLBA1
Variant:p.C296R

CLBA1

18 papers

Pfam Domains

Clathrin_bdgaa 193–272UCSCClathrin-binding box of Aftiphilin, vesicle trafficking

Gene Aliases

HGNC Name

clathrin binding box of aftiphilin containing 1

HGNC Previous Symbol

C14orf79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_174891.4
p.C296R
c.886T>C
Surrounding Variants
1 paper
NM_174891.4
p.R289C
c.865C>T
1 paper
NM_174891.4
p.Q281R
c.842A>G
2 papers
NM_174891.4
p.Q281delFs
c.842_843delAG
1 paper
NM_174891.4
p.Q281fs
c.841_842fs
1 paper
NM_174891.4
p.Q281del1
c.841_842delCAG
1 paper
NM_174891.4
p.T311I
c.932C>T
1 paper
NM_174891.4
p.R313C
c.937C>T
1 paper
NM_174891.4
p.D323N
c.967G>A
1 paper
NM_174891.4
p.C261F
c.782G>T
1 paper
NM_174891.4
p.L248F
c.742C>T
1 paper
NM_174891.4
p.F222Y
c.665T>A
1 paper
NM_174891.4
p.V159I
c.475G>A
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