Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.A578P

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
10 papers
NM_173630.4
p.A578P
c.1732G>C
Surrounding Variants
2 papers
NM_173630.4
p.H585R
c.1754A>G
1 paper
NM_173630.4
p.G613E
c.1838G>A
1 paper
NM_173630.4
p.H625Y
c.1873C>T
1 paper
NM_173630.4
p.R629*
c.1885C>T
1 paper
NM_173630.4
p.K631N
c.1893A>T
1 paper
NM_173630.4
p.K631N
c.1893A>C
1 paper
NM_173630.4
p.I641V
c.1921A>G
1 paper
NM_173630.4
p.I560T
c.1679T>C
1 paper
NM_173630.4
p.N555K
c.1665C>G
1 paper
NM_173630.4
p.N555K
c.1665C>A
1 paper
NM_173630.4
p.I521I
c.1563T>C
1 paper
NM_173630.4
p.S509_L510delFs
c.1527_1528delAA
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