Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.E224G

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.E224G
c.671A>G
Surrounding Variants
1 paper
NM_144688.5
p.E223D
c.669G>C
1 paper
NM_144688.5
p.E223D
c.669G>T
1 paper
NM_144688.5
p.E226_D227delFs
c.678_681del4
1 paper
NM_144688.5
p.M221I
c.663G>T
1 paper
NM_144688.5
p.L215L
c.643C>T
1 paper
NM_144688.5
p.Q238R
c.713A>G
1 paper
NM_144688.5
p.R240_S241delFs
c.720_723del4
1 paper
NM_144688.5
p.L243V
c.727C>G
1 paper
NM_144688.5
p.A246T
c.736G>A
1 paper
NM_144688.5
p.R247Q
c.740G>A
8 papers
NM_144688.5
p.A249A
c.747G>A
1 paper
NM_144688.5
p.A249_E250Splc
c.748-10G>A
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