Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43

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
1–12 of 197 variants
8 papers
NM_025145.7
p.R85W
c.253C>T
8 papers
NM_025145.7
p.C934*
c.2802T>A
8 papers
NM_025145.7
p.R1378*
c.4132C>T
7 papers
NM_025145.7
p.W886*
c.2658G>A
6 papers
NM_025145.7
p.S129Y
c.386C>A
6 papers
NM_025145.7
p.V347A
c.1040T>C
6 papers
NM_025145.7
p.W886*
c.2657G>A
5 papers
NM_025145.7
p.V197M
c.589G>A
5 papers
NM_025145.7
p.G492R
c.1474G>C
5 papers
NM_025145.7
p.K714Splc
c.2141+5G>A
5 papers
NM_025145.7
p.R894*
c.2680C>T
5 papers
NM_025145.7
p.R1118*
c.3352C>T
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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."