Varaico: Literature-Extracted Genetic Variants

Gene:CFAP70
Variant:p.K574_H575Splc

CFAP70

57 papers

Pfam Domains

TPR_8aa 930–960UCSCTetratricopeptide repeat
TPR_8aa 963–991UCSCTetratricopeptide repeat
TPR_8aa 1002–1033UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 70

HGNC Previous Symbol

TTC18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001367801.1
p.K574_H575Splc
c.1723-1G>T
Surrounding Variants
1 paper
NM_001367801.1
p.E592delFs
c.1774_1775delTC
1 paper
NM_001367801.1
p.E603_L604insG
c.1807_1811ins3
1 paper
NM_001367801.1
p.K565T
c.1694A>C
1 paper
NM_001367801.1
p.A524T
c.1570G>A
1 paper
NM_001367801.1
p.S512I
c.1535G>T
1 paper
NM_001367801.1
p.T504R
c.1511C>G
1 paper
NM_001367801.1
p.E492K
c.1474G>A
1 paper
NM_001367801.1
p.P621insFs
c.1862dupC
1 paper
NM_001367801.1
p.T630I
c.1889C>T
1 paper
NM_001367801.1
p.L673S
c.2018T>C
1 paper
NM_001367801.1
p.K687insFs
c.2061dupA
1 paper
NM_001367801.1
p.H702Y
c.2104C>T
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