Varaico: Literature-Extracted Genetic Variants

Gene:CFAP92
Variant:p.P125R

CFAP92

30 papers

Pfam Domains

DUF4550aa 115–209UCSCDomain of unknown function (DUF4550)
DUF4550aa 115–209UCSCDomain of unknown function (DUF4550)
FLJ43738_Naa 459–637UCSCUncharacterised protein FLJ43738 N-terminal domain
FLJ43738_Caa 659–860UCSCUncharacterised protein FLJ43738 C-terminal domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 92 (putative)

HGNC Previous Symbol

KIAA1257

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394090.1
p.P125R
c.374C>G
Surrounding Variants
1 paper
NM_001394090.1
p.F116_H118del0
c.346_354del9
1 paper
NM_001394090.1
p.Y117insFs
c.350_351insT
1 paper
NM_001394090.1
p.V110F
c.328G>T
2 papers
NM_001394090.1
p.A142S
c.424G>T
1 paper
NM_001394090.1
p.K92I
c.275A>T
1 paper
NM_001394090.1
p.E158K
c.472G>A
1 paper
NM_001394090.1
p.S165L
c.494C>T
1 paper
NM_001394090.1
p.R206*
c.616C>T
1 paper
NM_001394090.1
p.C75R
c.223T>C
1 paper
NM_001394090.1
p.D68Y
c.202G>T
1 paper
NM_001394090.1
p.D49N
c.145G>A
1 paper
NM_001394090.1
p.E34K
c.100G>A
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