Varaico: Literature-Extracted Genetic Variants

Gene:CFAP91
Variant:p.E309*

CFAP91

86 papers

Pfam Domains

CFAP91aa 191–343UCSCCilia- and flagella-associated protein 91
CFAP91aa 191–343UCSCCilia- and flagella-associated protein 91
CFAP91aa 191–343UCSCCilia- and flagella-associated protein 91

Gene Aliases

HGNC Name

cilia and flagella associated protein 91

HGNC Previous Symbols

C3orf15; MAATS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033364.4
p.E309*
c.925G>T
Surrounding Variants
1 paper
NM_033364.4
p.R303C
c.907C>T
2 papers
NM_033364.4
p.R292L
c.875G>T
1 paper
NM_033364.4
p.L288L
c.864G>T
1 paper
NM_033364.4
p.K287N
c.861A>T
1 paper
NM_033364.4
p.I333T
c.998T>C
1 paper
NM_033364.4
p.R335_T336del2
c.1003_1007del6
1 paper
NM_033364.4
p.E356K
c.1066G>A
1 paper
NM_033364.4
p.R357insFs
c.1069_1070insAC
1 paper
NM_033364.4
p.R357K
c.1070G>A
1 paper
NM_033364.4
p.Y364*
c.1092T>G
2 papers
NM_033364.4
p.D366N
c.1096G>A
1 paper
NM_033364.4
p.D366E
c.1098T>A
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