Varaico: Literature-Extracted Genetic Variants

Gene:CLBA1

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
1–12 of 21 variants
2 papers
NM_174891.4
p.Q281delFs
c.842_843delAG
2 papers
NM_174891.4
p.C296R
c.886T>C
1 paper
NM_174891.4
p.E6A
c.17A>C
1 paper
NM_174891.4
p.L7fs
c.19_20fs
1 paper
NM_174891.4
p.T41S
c.121A>T
1 paper
NM_174891.4
p.T41S
c.122C>G
1 paper
NM_174891.4
p.A66S
c.196G>T
1 paper
NM_174891.4
p.F94delFs
c.281delT
1 paper
NM_174891.4
p.P110L
c.329C>T
1 paper
NM_174891.4
p.L144L
c.432C>T
1 paper
NM_174891.4
p.V159I
c.475G>A
1 paper
NM_174891.4
p.F222Y
c.665T>A
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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."