Varaico: Literature-Extracted Genetic Variants

Gene:CCDC146
Variant:p.K759_L760Splc

CCDC146

71 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 146

HGNC Alias Symbols

KIAA1505; MBO2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020879.3
p.K759_L760Splc
c.2277+1G>A
Surrounding Variants
1 paper
NM_020879.3
p.E773K
c.2317G>A
1 paper
NM_020879.3
p.D786E
c.2358C>A
1 paper
NM_020879.3
p.D786E
c.2358C>G
1 paper
NM_020879.3
p.K805fs
c.2413_2414fs
1 paper
NM_020879.3
p.K805_M806insFs
c.2415_2416insAT
1 paper
NM_020879.3
p.R704delFs
c.2112delG
1 paper
NM_020879.3
p.A687fs
c.2059_2060fs
1 paper
NM_020879.3
p.I679F
c.2035A>T
1 paper
NM_020879.3
p.R647Q
c.1940G>A
1 paper
NM_020879.3
p.R647W
c.1939C>T
1 paper
NM_020879.3
p.R647_E648delFs
c.1939_1942del4
1 paper
NM_020879.3
p.E646fs
c.1936_1937fs
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