Varaico: Literature-Extracted Genetic Variants

Gene:CFAP144
Variant:p.W126*

CFAP144

9 papers

Pfam Domains

FAM183aa 18–121UCSCFAM183A and FAM183B related

Gene Aliases

HGNC Name

cilia and flagella associated protein 144

HGNC Previous Symbol

FAM183A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001101376.3
p.W126*
c.377G>A
Surrounding Variants
2 papers
NM_001101376.3
p.W126*
c.378G>A
1 paper
NM_001101376.3
p.T125M
c.374C>T
1 paper
NM_001101376.3
p.R107S
c.319C>A
1 paper
NM_001101376.3
p.R107C
c.319C>T
2 papers
NM_001101376.3
p.L59L
c.177G>A
1 paper
NM_001101376.3
p.R43H
c.128G>A
1 paper
NM_001101376.3
p.R29Q
c.86G>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."