Varaico: Literature-Extracted Genetic Variants

Gene:CFAP70
Variant:p.G71delFs

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
1 paper
NM_001367801.1
p.G71delFs
c.211delC
Surrounding Variants
1 paper
NM_001367801.1
p.P68S
c.202C>T
1 paper
NM_001367801.1
p.P81R
c.242C>G
1 paper
NM_001367801.1
p.T61T
c.183T>G
1 paper
NM_001367801.1
p.T61S
c.182C>G
4 papers
NM_001367801.1
p.F60I
c.178T>A
1 paper
NM_001367801.1
p.I48_T49del1
c.143_145delTAA
1 paper
NM_001367801.1
p.A35S
c.103G>T
1 paper
NM_001367801.1
p.R34*
c.100C>T
1 paper
NM_001367801.1
p.V15L
c.43G>T
1 paper
NM_001367801.1
p.V15L
c.43G>C
1 paper
NM_001367801.1
p.M1insFs
c.3dupG
1 paper
NM_001367801.1
p.M1insFs
c.2dupT
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