Varaico: Literature-Extracted Genetic Variants

Gene:IFT70A
Variant:p.Y124Y

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.Y124Y
c.372T>C
Surrounding Variants
1 paper
NM_152275.4
p.D128N
c.382G>A
1 paper
NM_152275.4
p.G145R
c.433G>C
1 paper
NM_152275.4
p.G145R
c.433G>A
1 paper
NM_152275.4
p.L89L
c.267G>A
1 paper
NM_152275.4
p.G72R
c.214G>C
1 paper
NM_152275.4
p.G185D
c.554G>A
1 paper
NM_152275.4
p.R202*
c.604C>T
1 paper
NM_152275.4
p.R202Q
c.605G>A
1 paper
NM_152275.4
p.A207S
c.619G>T
1 paper
NM_152275.4
p.E37Q
c.109G>C
2 papers
NM_152275.4
p.R217H
c.650G>A
2 papers
NM_152275.4
p.R220C
c.658C>T
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