Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.C934*

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
8 papers
NM_025145.7
p.C934*
c.2802T>A
Surrounding Variants
1 paper
NM_025145.7
p.T914M
c.2741C>T
1 paper
NM_025145.7
p.P909L
c.2726C>T
1 paper
NM_025145.7
p.P909S
c.2725C>T
2 papers
NM_025145.7
p.F899_H900del2
c.2695_2699del6
1 paper
NM_025145.7
p.I941insFs
c.2823dupT
1 paper
NM_025145.7
p.S946Y
c.2837C>A
1 paper
NM_025145.7
p.L979_L982delFs
c.2935_2944del10
1 paper
NM_025145.7
p.L997L
c.2991G>A
5 papers
NM_025145.7
p.R894*
c.2680C>T
7 papers
NM_025145.7
p.W886*
c.2658G>A
6 papers
NM_025145.7
p.W886*
c.2657G>A
1 paper
NM_025145.7
p.L880R
c.2639T>G
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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."