Varaico: Literature-Extracted Genetic Variants

Gene:CIMIP2A
Variant:p.Q249_F250Splc

CIMIP2A

46 papers

Pfam Domains

CMI2B-likeaa 13–71UCSCCiliary microtubule inner protein 2B-like

Gene Aliases

HGNC Name

ciliary microtubule inner protein 2A

HGNC Previous Symbol

FAM166A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001001710.3
p.Q249_F250Splc
c.747+2T>C
Surrounding Variants
1 paper
NM_001001710.3
p.G237C
c.709G>T
1 paper
NM_001001710.3
p.D236E
c.708C>G
1 paper
NM_001001710.3
p.D236E
c.708C>A
1 paper
NM_001001710.3
p.F222L
c.666C>G
1 paper
NM_001001710.3
p.F222L
c.666C>A
1 paper
NM_001001710.3
p.F222L
c.664T>C
1 paper
NM_001001710.3
p.Y219Y
c.657T>C
3 papers
NM_001001710.3
p.L251fs
c.751_752fs
4 papers
NM_001001710.3
p.L251delFs
c.751_752delAG
1 paper
NM_001001710.3
p.L251del1
c.751_752delCAG
1 paper
NM_001001710.3
p.F252fs
c.754_755fs
1 paper
NM_001001710.3
p.H256N
c.766C>A
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