Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0513

KIAA0513

37 papers

Pfam Domains

SBF2aa 283–362UCSCMyotubularin protein

Gene Aliases

Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
1 paper
NM_001388359.1
p.E5fs
c.13_14fs
1 paper
NM_001388359.1
p.V6insFs
c.17_18insG
1 paper
NM_001388359.1
p.G9S
c.25G>A
1 paper
NM_001388359.1
p.G15W
c.43G>T
1 paper
NM_001388359.1
p.P23L
c.68C>T
1 paper
NM_001388359.1
p.P29P
c.87T>A
1 paper
NM_001388359.1
p.G34S
c.100G>A
1 paper
NM_001388359.1
p.D40D
c.120C>T
1 paper
NM_001388359.1
p.S45R
c.133A>C
1 paper
NM_001388359.1
p.S45R
c.135T>A
1 paper
NM_001388359.1
p.S45R
c.135T>G
1 paper
NM_001388359.1
p.E54D
c.162G>C
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