Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.S542W

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.S542W
c.1625C>G
Surrounding Variants
1 paper
NM_025145.7
p.D533N
c.1597G>A
3 papers
NM_025145.7
p.T526delFs
c.1577_1578delTG
2 papers
NM_025145.7
p.T526fs
c.1576_1577fs
1 paper
NM_025145.7
p.Q562K
c.1684C>A
1 paper
NM_025145.7
p.S564F
c.1691C>T
1 paper
NM_025145.7
p.L590Q
c.1769T>A
1 paper
NM_025145.7
p.S592delFs
c.1774_1775delGA
1 paper
NM_025145.7
p.L595S
c.1784T>C
1 paper
NM_025145.7
p.Y603_G604insG
c.1807_1811ins3
1 paper
NM_025145.7
p.E621insFs
c.1862dupA
1 paper
NM_025145.7
p.Q635P
c.1904A>C
1 paper
NM_025145.7
p.R637K
c.1910G>A
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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."