Varaico: Literature-Extracted Genetic Variants

Gene:RTTN

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
1–12 of 299 variants
11 papers
NM_173630.4
p.W962Splc
c.2885+8A>G
11 papers
NM_173630.4
p.R985G
c.2953A>G
10 papers
NM_173630.4
p.A578P
c.1732G>C
10 papers
NM_173630.4
p.R985G
c.2953A>G
9 papers
NM_173630.4
p.C27Y
c.80G>A
9 papers
NM_173630.4
p.L932F
c.2796A>T
8 papers
NM_173630.4
p.L932F
c.2796A>C
8 papers
NM_173630.4
p.K1064Q
c.3190A>C
7 papers
NM_173630.4
p.H865R
c.2594A>G
7 papers
NM_173630.4
p.D1917G
c.5750A>G
5 papers
NM_173630.4
p.G11Splc
c.32-3C>T
5 papers
NM_173630.4
p.V64F
c.190G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."