Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.S161T

CFAP43

111 papers

RefSeq Summary

This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016].

Pfam Domains

CC_Cfap43aa 786–1662UCSCCfap43 coiled coil

Gene Aliases

HGNC Name

cilia and flagella associated protein 43

HGNC Previous Symbols

C10orf79; WDR96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025145.7
p.S161T
c.481T>A
Surrounding Variants
1 paper
NM_025145.7
p.F162V
c.484T>G
1 paper
NM_025145.7
p.N166S
c.497A>G
1 paper
NM_025145.7
p.S174G
c.520A>G
1 paper
NM_025145.7
p.S143_I145del3
c.427_434del9
1 paper
NM_025145.7
p.W141R
c.421T>C
1 paper
NM_025145.7
p.W141R
c.421T>A
2 papers
NM_025145.7
p.R195fs
c.583_584fs
5 papers
NM_025145.7
p.V197M
c.589G>A
1 paper
NM_025145.7
p.L201_E202insFs
c.603_604insG
1 paper
NM_025145.7
p.F206delFs
c.616delA
1 paper
NM_025145.7
p.Q216P
c.647A>C
1 paper
NM_025145.7
p.V227insFs
c.680dupT
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."