Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.D315N

KASH5

84 papers

Pfam Domains

EF-hand_9aa 38–105UCSCEF-hand domain
KASH_CCDaa 157–347UCSCCoiled-coil region of CCDC155 or KASH

Gene Aliases

HGNC Name

KASH domain containing 5

HGNC Previous Symbol

CCDC155

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144688.5
p.D315N
c.943G>A
Surrounding Variants
1 paper
NM_144688.5
p.D315_V316delFs
c.945_948del4
1 paper
NM_144688.5
p.R312C
c.934C>T
2 papers
NM_144688.5
p.A320S
c.958G>T
1 paper
NM_144688.5
p.T322P
c.964A>C
1 paper
NM_144688.5
p.Y326C
c.977A>G
5 papers
NM_144688.5
p.R327_V328delFs
c.981_982delAG
1 paper
NM_144688.5
p.R327fs
c.979_980fs
2 papers
NM_144688.5
p.R327fs
c.979_980fs
1 paper
NM_144688.5
p.E299*
c.895G>T
1 paper
NM_144688.5
p.K292_R293Splc
c.876+1G>A
1 paper
NM_144688.5
p.D289_T290del2
c.865_869del6
1 paper
NM_144688.5
p.Q282H
c.846G>C
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