Varaico: Literature-Extracted Genetic Variants

Gene:IFT70A
Variant:p.L358F

IFT70A

42 papers

Pfam Domains

TPR_16aa 15–77UCSCTetratricopeptide repeat
TPR_16aa 158–222UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

intraflagellar transport 70A

HGNC Previous Symbol

TTC30A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152275.4
p.L358F
c.1072C>T
Surrounding Variants
1 paper
NM_152275.4
p.L365M
c.1093C>A
1 paper
NM_152275.4
p.E373Q
c.1117G>C
1 paper
NM_152275.4
p.A375V
c.1124C>T
1 paper
NM_152275.4
p.A431T
c.1291G>A
3 papers
NM_152275.4
p.P279H
c.836C>A
4 papers
NM_152275.4
p.V446I
c.1336G>A
1 paper
NM_152275.4
p.V467D
c.1400T>A
1 paper
NM_152275.4
p.M470fs
c.1408_1409fs
1 paper
NM_152275.4
p.M470delFs
c.1409delA
1 paper
NM_152275.4
p.L245I
c.733C>A
1 paper
NM_152275.4
p.E477K
c.1429G>A
2 papers
NM_152275.4
p.R237H
c.710G>A
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