Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.V1328I

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.V1328I
c.3982G>A
Surrounding Variants
3 papers
NM_025145.7
p.I1316fs
c.3946_3947fs
1 paper
NM_025145.7
p.N1341Y
c.4021A>T
1 paper
NM_025145.7
p.T1376delFs
c.4127delG
8 papers
NM_025145.7
p.R1378*
c.4132C>T
1 paper
NM_025145.7
p.P1314L
c.3941C>T
1 paper
NM_025145.7
p.R1313Q
c.3938G>A
3 papers
NM_025145.7
p.R1312H
c.3935G>A
1 paper
NM_025145.7
p.K1308insFs
c.3922dupA
4 papers
NM_025145.7
p.E1294delFs
c.3882delT
1 paper
NM_025145.7
p.E1294G
c.3881A>G
2 papers
NM_025145.7
p.E1294fs
c.3880_3881fs
1 paper
NM_025145.7
p.E1428D
c.4284G>T
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