Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF6
Variant:p.E43*

DNAAF6

46 papers

Pfam Domains

PIH1_CSaa 108–205UCSCPIH1 CS-like domain

Gene Aliases

HGNC Name

dynein axonemal assembly factor 6

HGNC Previous Symbols

CXorf41; PIH1D3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_173494.2
p.E43*
c.127G>T
Surrounding Variants
1 paper
NM_173494.2
p.D45N
c.133G>A
1 paper
NM_173494.2
p.N40_P41del2
c.118_122del6
2 papers
NM_173494.2
p.E14A
c.41A>C
1 paper
NM_173494.2
p.E14delFs
c.40_41delGA
1 paper
NM_173494.2
p.M11delFs
c.33delG
3 papers
NM_173494.2
p.M1insFs
c.2dupT
1 paper
NM_173494.2
p.G54_L55Fs
c.162_164delinsGFs
1 paper
NM_173494.2
p.I66_G67Fs
c.198_200delinsCCFs
1 paper
NM_173494.2
p.P69_Q70delFs
c.205_209del5
1 paper
NM_173494.2
p.L74I
c.220C>A
1 paper
NM_173494.2
p.E82delFs
c.245delA
1 paper
NM_173494.2
p.N84S
c.251A>G
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