Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.N1101T

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.N1101T
c.3302A>C
Surrounding Variants
1 paper
NM_173630.4
p.Y1098insFs
c.3293dupA
1 paper
NM_173630.4
p.T1093T
c.3279C>T
1 paper
NM_173630.4
p.C1113Y
c.3338G>A
1 paper
NM_173630.4
p.T1084I
c.3251C>T
1 paper
NM_173630.4
p.W1122R
c.3364T>C
1 paper
NM_173630.4
p.W1122R
c.3364T>A
1 paper
NM_173630.4
p.I1079V
c.3235A>G
1 paper
NM_173630.4
p.Q1073L
c.3218A>T
1 paper
NM_173630.4
p.G1071E
c.3212G>A
3 papers
NM_173630.4
p.K1064E
c.3190A>G
8 papers
NM_173630.4
p.K1064Q
c.3190A>C
1 paper
NM_173630.4
p.T1057I
c.3170C>T
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