Varaico: Literature-Extracted Genetic Variants

Gene:IFT56
Variant:p.L466F

IFT56

51 papers

Pfam Domains

TPR_8aa 57–88UCSCTetratricopeptide repeat
TPR_8aa 57–88UCSCTetratricopeptide repeat
TPR_8aa 91–113UCSCTetratricopeptide repeat
TPR_8aa 91–113UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

intraflagellar transport 56

HGNC Previous Symbol

TTC26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024926.4
p.L466F
c.1396C>T
Surrounding Variants
1 paper
NM_024926.4
p.M454V
c.1360A>G
2 papers
NM_001144923.3
p.P413L
c.1238C>T
NM_024926.4
p.P444L
c.1331C>T
3 papers
NM_024926.4
p.Y430*
c.1290C>A
3 papers
NM_024926.4
p.Y430*
c.1290C>G
1 paper
NM_024926.4
p.M424T
c.1271T>C
1 paper
NM_024926.4
p.K423E
c.1267A>G
1 paper
NM_024926.4
p.G412G
c.1236C>T
1 paper
NM_024926.4
p.N383Y
c.1147A>T
1 paper
NM_024926.4
p.L382I
c.1144C>A
1 paper
NM_024926.4
p.S367P
c.1099T>C
1 paper
NM_024926.4
p.R362_Q363insFs
c.1086_1089dup4
2 papers
NM_024926.4
p.I359V
c.1075A>G
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