Varaico: Literature-Extracted Genetic Variants

Gene:CROCC
Variant:p.Q469*

CROCC

238 papers

Pfam Domains

Rootletinaa 156–332UCSCCiliary rootlet component, centrosome cohesion

Gene Aliases

HGNC Name

ciliary rootlet coiled-coil, rootletin

HGNC Alias Symbols

rootletin; ROLT; CROCC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014675.5
p.Q469*
c.1405C>T
Surrounding Variants
1 paper
NM_014675.5
p.S466fs
c.1396_1397fs
1 paper
NM_014675.5
p.S464_E465delFs
c.1392_1393delTG
2 papers
NM_014675.5
p.D463Y
c.1387G>T
1 paper
NM_014675.5
p.N481K
c.1443C>A
1 paper
NM_014675.5
p.N481K
c.1443C>G
1 paper
NM_014675.5
p.N481N
c.1443C>T
1 paper
NM_014675.5
p.P493L
c.1478C>T
1 paper
NM_014675.5
p.S494Fs
c.1482delinsGCCAGGFs
1 paper
NM_014675.5
p.R505R
c.1515T>G
7 papers
NM_014675.5
p.P511S
c.1531C>T
1 paper
NM_014675.5
p.P513L
c.1538C>T
2 papers
NM_014675.5
p.I524F
c.1570A>T
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