Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.S1318*

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
2 papers
NM_001306084.2
p.S1318*
c.3953C>A
Surrounding Variants
1 paper
NM_001306084.2
p.C1346Y
c.4037G>A
1 paper
NM_001306084.2
p.V1356I
c.4066G>A
1 paper
NM_001306084.2
p.T1359S
c.4075A>T
1 paper
NM_001306084.2
p.D1364E
c.4092C>A
1 paper
NM_001306084.2
p.D1364E
c.4092C>G
1 paper
NM_001306084.2
p.D1222G
c.3665A>G
1 paper
NM_001306084.2
p.R1216H
c.3647G>A
1 paper
NM_001306084.2
p.L1215F
c.3643C>T
1 paper
NM_001306084.2
p.I1214F
c.3640A>T
2 papers
NM_001306084.2
p.E1371A
c.4112A>C
1 paper
NM_001306084.2
p.L1374R
c.4121T>G
1 paper
NM_001306084.2
p.G1375R
c.4123G>A
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