Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.P56L

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.P56L
c.167C>T
Surrounding Variants
1 paper
NM_173630.4
p.M60V
c.178A>G
5 papers
NM_173630.4
p.V64F
c.190G>T
1 paper
NM_173630.4
p.L67L
c.199C>T
1 paper
NM_173630.4
p.L67insFs
c.200dupT
1 paper
NM_173630.4
p.L45F
c.133C>T
1 paper
NM_173630.4
p.L68fs
c.202_203fs
1 paper
NM_173630.4
p.Q44K
c.130C>A
1 paper
NM_173630.4
p.V72I
c.214G>A
1 paper
NM_173630.4
p.A37T
c.109G>A
1 paper
NM_173630.4
p.K28T
c.83A>C
9 papers
NM_173630.4
p.C27Y
c.80G>A
1 paper
NM_173630.4
p.I25T
c.74T>C
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