Varaico: Literature-Extracted Genetic Variants

Gene:CFAP70
Variant:p.R988*

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
5 papers
NM_001367801.1
p.R988*
c.2962C>T
Surrounding Variants
1 paper
NM_001367801.1
p.V993L
c.2977G>T
1 paper
NM_001367801.1
p.V993L
c.2977G>C
1 paper
NM_001367801.1
p.E1013D
c.3039G>T
1 paper
NM_001367801.1
p.E1013D
c.3039G>C
1 paper
NM_001367801.1
p.L941insFs
c.2823dupT
1 paper
NM_001367801.1
p.H939_I940delFs
c.2817_2818delTG
1 paper
NM_001367801.1
p.H939fs
c.2815_2816fs
1 paper
NM_001367801.1
p.S928N
c.2783G>A
1 paper
NM_001367801.1
p.Q910_Y911Splc
c.2731-1G>C
1 paper
NM_001367801.1
p.E1015_Y1016Splc
c.3046-1G>T
1 paper
NM_001367801.1
p.T1022S
c.3064A>T
1 paper
NM_001367801.1
p.T1022S
c.3065C>G
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