Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.V347A

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
6 papers
NM_025145.7
p.V347A
c.1040T>C
Surrounding Variants
1 paper
NM_025145.7
p.E348V
c.1043A>T
1 paper
NM_025145.7
p.S353T
c.1057T>A
1 paper
NM_025145.7
p.F340S
c.1019T>C
1 paper
NM_025145.7
p.T357I
c.1070C>T
1 paper
NM_025145.7
p.Y335_M336del2
c.1003_1007del6
1 paper
NM_025145.7
p.T357insFs
c.1069_1070insAC
1 paper
NM_025145.7
p.Q362K
c.1084C>A
1 paper
NM_025145.7
p.V316L
c.946G>T
3 papers
NM_025145.7
p.G315delFs
c.944delC
1 paper
NM_025145.7
p.G315fs
c.943_944fs
2 papers
NM_025145.7
p.R300delFs
c.899_900delTC
2 papers
NM_025145.7
p.R300fs
c.898_899fs
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."