Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.S2042*

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.S2042*
c.6125C>A
Surrounding Variants
1 paper
NM_173630.4
p.H2043Q
c.6129T>G
1 paper
NM_173630.4
p.H2043Q
c.6129T>A
1 paper
NM_173630.4
p.C2045Y
c.6134G>A
1 paper
NM_173630.4
p.T2027M
c.6080C>T
3 papers
NM_173630.4
p.C2013F
c.6038G>T
1 paper
NM_173630.4
p.A2005A
c.6015C>T
1 paper
NM_173630.4
p.Q2056R
c.6167A>G
1 paper
NM_173630.4
p.L2063F
c.6189G>T
1 paper
NM_173630.4
p.L2063F
c.6189G>C
1 paper
NM_173630.4
p.I2076F
c.6226A>T
1 paper
NM_173630.4
p.G2091delFs
c.6273delC
1 paper
NM_173630.4
p.Q2092fs
c.6274_6275fs
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