Varaico: Literature-Extracted Genetic Variants

Gene:CATIP
Variant:p.M184I

CATIP

26 papers

Pfam Domains

CATIP_Naa 31–263UCSCCiliogenesis-associated TTC17-interacting protein, N-terminal domain

Gene Aliases

HGNC Name

ciliogenesis associated TTC17 interacting protein

HGNC Previous Symbol

C2orf62

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198559.2
p.M184I
c.552G>A
Surrounding Variants
1 paper
NM_198559.2
p.M184I
c.552G>C
1 paper
NM_198559.2
p.M184I
c.552G>T
1 paper
NM_198559.2
p.E202K
c.604G>A
1 paper
NM_198559.2
p.G203D
c.608G>A
1 paper
NM_198559.2
p.E237K
c.709G>A
1 paper
NM_198559.2
p.Y247H
c.739T>C
1 paper
NM_198559.2
p.D251N
c.751G>A
2 papers
NM_198559.2
p.G153D
c.458G>A
2 papers
NM_198559.2
p.P272P
c.816C>T
1 paper
NM_198559.2
p.F286L
c.856T>C
1 paper
NM_198559.2
p.F286L
c.858T>A
1 paper
NM_198559.2
p.F286L
c.858T>G
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