Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.L988P

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.L988P
c.2963T>C
Surrounding Variants
11 papers
NM_173630.4
p.R985G
c.2953A>G
1 paper
NM_173630.4
p.L1012F
c.3036G>T
1 paper
NM_173630.4
p.P1016P
c.3048G>A
1 paper
NM_173630.4
p.W1025C
c.3075G>T
1 paper
NM_173630.4
p.W1025C
c.3075G>C
1 paper
NM_173630.4
p.N1041T
c.3122A>C
1 paper
NM_173630.4
p.T1057I
c.3170C>T
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.G1071E
c.3212G>A
1 paper
NM_173630.4
p.Q1073L
c.3218A>T
1 paper
NM_173630.4
p.I1079V
c.3235A>G
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