Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.L1953V

RTTN

181 papers

RefSeq Summary

This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation...

Pfam Domains

RTTN_Naa 16–112UCSCRotatin, an armadillo repeat protein, centriole functioning

Gene Aliases

HGNC Name

rotatin

HGNC Alias Symbol

DKFZP434G145

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173630.4
p.L1953V
c.5857T>G
Surrounding Variants
1 paper
NM_173630.4
p.M1967R
c.5900T>G
1 paper
NM_173630.4
p.S1970fs
c.5908_5909fs
1 paper
NM_173630.4
p.S1970_F1981delFs
c.5909_5942del34
1 paper
NM_173630.4
p.G1984Splc
c.5950+1G>T
1 paper
NM_173630.4
p.Q1936*
c.5806C>T
7 papers
NM_173630.4
p.D1917G
c.5750A>G
1 paper
NM_173630.4
p.K1915_E1916Splc
c.5746-3T>C
3 papers
NM_173630.4
p.K1915_E1916Splc
c.5746-20A>G
1 paper
NM_173630.4
p.A2005A
c.6015C>T
3 papers
NM_173630.4
p.C2013F
c.6038G>T
1 paper
NM_173630.4
p.T2027M
c.6080C>T
1 paper
NM_173630.4
p.S2042*
c.6125C>A
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