Varaico: Literature-Extracted Genetic Variants

Gene:CFAP45
Variant:p.V30M

CFAP45

40 papers

Pfam Domains

TPHaa 184–532UCSCTrichohyalin-plectin-homology domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 45

HGNC Alias Symbol

NESG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012337.3
p.V30M
c.88G>A
Surrounding Variants
1 paper
NM_012337.3
p.P2S
c.4C>T
1 paper
NM_012337.3
p.K43_S44Splc
c.130-60G>A
1 paper
NM_012337.3
p.R84Q
c.251G>A
1 paper
NM_012337.3
p.I91fs
c.271_272fs
1 paper
NM_012337.3
p.I91delFs
c.271delT
1 paper
NM_012337.3
p.E122D
c.366A>T
1 paper
NM_012337.3
p.E122D
c.366A>C
2 papers
NM_012337.3
p.R145*
c.433C>T
1 paper
NM_012337.3
p.Q151fs
c.451_452fs
1 paper
NM_012337.3
p.Q151fs
c.451_452fs
1 paper
NM_012337.3
p.M154V
c.460A>G
1 paper
NM_012337.3
p.Q151_V155delFs
c.452_464del13
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."