Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF19
Variant:p.L183P

DNAAF19

90 papers

Pfam Domains

Dynein_attach_Naa 7–74UCSCDynein attachment factor N-terminus
RPAP3_Caa 98–188UCSCPotential Monad-binding region of RPAP3

Gene Aliases

HGNC Name

dynein axonemal assembly factor 19

HGNC Previous Symbol

CCDC103

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_213607.3
p.L183P
c.548T>C
Surrounding Variants
2 papers
NM_213607.3
p.S190insFs
c.568_569dupAG
1 paper
NM_213607.3
p.S190delFs
c.568_569delAG
1 paper
NM_213607.3
p.E187fs
c.559_560fs
1 paper
NM_213607.3
p.S190insFs
c.569_570dupGC
1 paper
NM_213607.3
p.K208R
c.623A>G
1 paper
NM_213607.3
p.P157P
c.471G>A
45 papers
NM_213607.3
p.H154P
c.461A>C
1 paper
NM_213607.3
p.A152D
c.455C>A
1 paper
NM_213607.3
p.E215D
c.645G>C
1 paper
NM_213607.3
p.E215D
c.645G>T
1 paper
NM_213607.3
p.E146Q
c.436G>C
1 paper
NM_213607.3
p.G224R
c.670G>A
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