Varaico: Literature-Extracted Genetic Variants

Gene:CFAP126
Variant:p.S34F

CFAP126

16 papers

Pfam Domains

CFAP126aa 1–177UCSCFlattop

Gene Aliases

HGNC Name

cilia and flagella associated protein 126

HGNC Previous Symbol

C1orf192

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013625.4
p.S34F
c.101C>T
Surrounding Variants
1 paper
NM_001013625.4
p.N44N
c.132C>T
1 paper
NM_001013625.4
p.S52F
c.155C>T
1 paper
NM_001013625.4
p.G62insFs
c.185dupG
1 paper
NM_001013625.4
p.M65K
c.194T>A
1 paper
NM_001013625.4
p.P71S
c.211C>T
1 paper
NM_001013625.4
p.P76delFs
c.227delG
1 paper
NM_001013625.4
p.A77V
c.230C>T
1 paper
NM_001013625.4
p.T82I
c.245C>T
1 paper
NM_001013625.4
p.K104*
c.310A>T
1 paper
NM_001013625.4
p.P111H
c.332C>A
1 paper
NM_001013625.4
p.E112A
c.335A>C
1 paper
NM_001013625.4
p.P163L
c.488C>T
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