Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.E348V

CFAP54

110 papers

Pfam Domains

CFAP54_Naa 99–638UCSCCilia- and flagella-associated protein 54

Gene Aliases

HGNC Name

cilia and flagella associated protein 54

HGNC Previous Symbols

C12orf63; C12orf55

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001306084.2
p.E348V
c.1043A>T
Surrounding Variants
2 papers
NM_001306084.2
p.R347Q
c.1040G>A
1 paper
NM_001306084.2
p.S335_S336del2
c.1003_1007del6
1 paper
NM_001306084.2
p.M333T
c.998T>C
1 paper
NM_001306084.2
p.L330L
c.988C>T
3 papers
NM_001306084.2
p.R319C
c.955C>T
1 paper
NM_001306084.2
p.I357insFs
c.1069_1070insAC
1 paper
NM_001306084.2
p.F373V
c.1117T>G
1 paper
NM_001306084.2
p.R378_I379del2
c.1132_1136del6
2 papers
NM_001306084.2
p.G313R
c.937G>A
2 papers
NM_001306084.2
p.G313R
c.937G>C
1 paper
NM_001306084.2
p.A309D
c.926C>A
1 paper
NM_001306084.2
p.C303delFs
c.907delT
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