Varaico: Literature-Extracted Genetic Variants

Gene:CIMIP2C
Variant:p.L166*

CIMIP2C

31 papers

Pfam Domains

CMI2B-likeaa 19–85UCSCCiliary microtubule inner protein 2B-like

Gene Aliases

HGNC Name

ciliary microtubule inner protein 2C

HGNC Previous Symbols

C2orf70; FAM166C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105519.3
p.L166*
c.497T>A
Surrounding Variants
1 paper
NM_001105519.3
p.L166*
c.497T>G
2 papers
NM_001105519.3
p.Q177L
c.530A>T
1 paper
NM_001105519.3
p.R134L
c.401G>T
1 paper
NM_001105519.3
p.R134*
c.400C>T
2 papers
NM_001105519.3
p.T129T
c.387G>A
1 paper
NM_001105519.3
p.T129insFs
c.386_387insA
1 paper
NM_001105519.3
p.T129fs
c.385_386fs
1 paper
NM_001105519.3
p.R122Q
c.365G>A
1 paper
NM_001105519.3
p.H121P
c.362A>C
1 paper
NM_001105519.3
p.T112T
c.336G>A
1 paper
NM_001105519.3
p.R91C
c.271C>T
1 paper
NM_001105519.3
p.P78L
c.233C>T
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