Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.V930insFs

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.V930insFs
c.2789dupT
Surrounding Variants
1 paper
NM_173630.4
p.V930fs
c.2788_2789fs
9 papers
NM_173630.4
p.L932F
c.2796A>T
8 papers
NM_173630.4
p.L932F
c.2796A>C
1 paper
NM_173630.4
p.T942P
c.2824A>C
11 papers
NM_173630.4
p.W962Splc
c.2885+8A>G
1 paper
NM_173630.4
p.W962Splc
c.2886-1G>A
1 paper
NM_173630.4
p.V964F
c.2890G>T
1 paper
NM_173630.4
p.S977R
c.2929A>C
1 paper
NM_173630.4
p.S977R
c.2931T>G
1 paper
NM_173630.4
p.S977R
c.2931T>A
10 papers
NM_173630.4
p.R985G
c.2953A>G
1 paper
NM_173630.4
p.V930Splc
c.2788+2T>G
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