Varaico: Literature-Extracted Genetic Variants

Gene:CFAP74
Variant:p.E352K

CFAP74

119 papers

Pfam Domains

Ig_CFAP74_1staa 515–611UCSCCFAP74 first Ig-like domain
Ig-CFAP74_2aa 618–800UCSCCFAP74 second Ig-like domain
Ig-CFAP74_3rdaa 802–914UCSCCFAP74 third Ig-like domain
Ig-CFAP74_4thaa 920–1016UCSCCFAP74 forth Ig-like domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 74

HGNC Previous Symbols

C1orf222; KIAA1751

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001304360.2
p.E352K
c.1054G>A
Surrounding Variants
1 paper
NM_001304360.2
p.L357insFs
c.1069_1070insAC
1 paper
NM_001304360.2
p.R358fs
c.1072_1073fs
1 paper
NM_001304360.2
p.R358delFs
c.1072delT
1 paper
NM_001304360.2
p.Q360*
c.1078C>T
4 papers
NM_001304360.2
p.I363V
c.1087A>G
1 paper
NM_001304360.2
p.S364R
c.1092T>G
2 papers
NM_001304360.2
p.R365Q
c.1094G>A
3 papers
NM_001304360.2
p.E370K
c.1108G>A
1 paper
NM_001304360.2
p.K375fs
c.1123_1124fs
1 paper
NM_001304360.2
p.K375delFs
c.1123_1124delTT
3 papers
NM_001304360.2
p.K378R
c.1133A>G
1 paper
NM_001304360.2
p.Q379Q
c.1137G>A
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."