Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.L533Q

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.L533Q
c.1598T>A
Surrounding Variants
1 paper
NM_144688.5
p.L532Q
c.1595T>A
1 paper
NM_144688.5
p.L534Q
c.1601T>A
1 paper
NM_144688.5
p.L535V
c.1603C>G
10 papers
NM_144688.5
p.L535Q
c.1604T>A
1 paper
NM_144688.5
p.L531Q
c.1592T>A
2 papers
NM_144688.5
p.L536del1
c.1606_1607delCTC
1 paper
NM_144688.5
p.L530Q
c.1589T>A
1 paper
NM_144688.5
p.L530P
c.1589T>C
3 papers
NM_144688.5
p.L535_L536del1
c.1605_1607delGCT
1 paper
NM_144688.5
p.G529S
c.1585G>A
1 paper
NM_144688.5
p.R519*
c.1555C>T
1 paper
NM_144688.5
p.P547P
c.1641C>T
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