Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.A142V

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.A142V
c.425C>T
Surrounding Variants
1 paper
NM_144688.5
p.C135_P136del2
c.403_407del6
2 papers
NM_144688.5
p.E155A
c.464A>C
1 paper
NM_144688.5
p.N173D
c.517A>G
2 papers
NM_144688.5
p.V177delFs
c.530delT
1 paper
NM_144688.5
p.A181T
c.541G>A
1 paper
NM_144688.5
p.M187fs
c.559_560fs
4 papers
NM_144688.5
p.L197P
c.590T>C
1 paper
NM_144688.5
p.L204L
c.610C>T
1 paper
NM_144688.5
p.L215L
c.643C>T
1 paper
NM_144688.5
p.M221I
c.663G>T
1 paper
NM_144688.5
p.E223D
c.669G>C
1 paper
NM_144688.5
p.E223D
c.669G>T
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