Varaico: Literature-Extracted Genetic Variants

Gene:IFT56
Variant:p.S335_R336Splc

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
2 papers
NM_024926.4
p.S335_R336Splc
c.1006-5T>C
Surrounding Variants
1 paper
NM_024926.4
p.R336fs
c.1006_1007fs
1 paper
NM_001321741.2
p.H232R
c.695A>G
1 paper
NM_024926.4
p.Q343*
c.1027C>T
1 paper
NM_024926.4
p.E355G
c.1064A>G
1 paper
NM_024926.4
p.D357Splc
c.1069+5G>A
1 paper
NM_024926.4
p.P313L
c.938C>T
2 papers
NM_024926.4
p.R297C
c.889C>T
1 paper
NM_024926.4
p.Y295S
c.884A>C
1 paper
NM_024926.4
p.I293I
c.879T>C
1 paper
NM_024926.4
p.P285S
c.853C>T
2 papers
NM_001144923.3
p.N232S
c.695A>G
NM_024926.4
p.N263S
c.788A>G
1 paper
NM_024926.4
p.A256_K257insFs
c.768_771dup4
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