Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.I393T

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
2 papers
NM_025145.7
p.I393T
c.1178T>C
Surrounding Variants
1 paper
NM_025145.7
p.T400I
c.1199C>T
4 papers
NM_025145.7
p.N380_K381delFs
c.1140_1143del4
1 paper
NM_025145.7
p.N380K
c.1140T>G
1 paper
NM_025145.7
p.N380K
c.1140T>A
1 paper
NM_025145.7
p.T378_L379del2
c.1132_1136del6
3 papers
NM_025145.7
p.N380fs
c.1138_1139fs
1 paper
NM_025145.7
p.K365_G366Splc
c.1096-2A>G
1 paper
NM_025145.7
p.E411K
c.1231G>A
1 paper
NM_025145.7
p.I412delFs
c.1235delA
2 papers
NM_025145.7
p.V414fs
c.1240_1241fs
4 papers
NM_025145.7
p.V414delFs
c.1240_1241delAC
1 paper
NM_025145.7
p.D419G
c.1256A>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."