Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.E1294fs

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.E1294fs
c.3880_3881fs
Surrounding Variants
1 paper
NM_025145.7
p.E1294G
c.3881A>G
4 papers
NM_025145.7
p.E1294delFs
c.3882delT
1 paper
NM_025145.7
p.K1308insFs
c.3922dupA
3 papers
NM_025145.7
p.R1312H
c.3935G>A
1 paper
NM_025145.7
p.R1313Q
c.3938G>A
1 paper
NM_025145.7
p.P1314L
c.3941C>T
1 paper
NM_025145.7
p.K1274_H1276del3
c.3820_3827del9
1 paper
NM_025145.7
p.K1274_H1276del0
c.3822_3827del6
1 paper
NM_025145.7
p.L1270P
c.3809T>C
1 paper
NM_025145.7
p.R1264W
c.3790C>T
3 papers
NM_025145.7
p.I1316fs
c.3946_3947fs
1 paper
NM_025145.7
p.V1328I
c.3982G>A
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