Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.G315fs

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.G315fs
c.943_944fs
Surrounding Variants
3 papers
NM_025145.7
p.G315delFs
c.944delC
1 paper
NM_025145.7
p.V316L
c.946G>T
2 papers
NM_025145.7
p.R300delFs
c.899_900delTC
2 papers
NM_025145.7
p.R300fs
c.898_899fs
1 paper
NM_025145.7
p.L298F
c.894G>T
1 paper
NM_025145.7
p.L298F
c.894G>C
1 paper
NM_025145.7
p.S296L
c.887C>T
1 paper
NM_025145.7
p.E295G
c.884A>G
1 paper
NM_025145.7
p.K291E
c.871A>G
1 paper
NM_025145.7
p.H275N
c.823C>A
1 paper
NM_025145.7
p.T257S
c.770C>G
1 paper
NM_025145.7
p.T257S
c.769A>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."