Varaico: Literature-Extracted Genetic Variants

Gene:KASH5
Variant:p.R361K

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.R361K
c.1082G>A
Surrounding Variants
1 paper
NM_144688.5
p.R362delFs
c.1085_1086delGA
1 paper
NM_144688.5
p.T366delFs
c.1098delC
2 papers
NM_144688.5
p.E367K
c.1099G>A
1 paper
NM_144688.5
p.P371A
c.1111C>G
1 paper
NM_144688.5
p.E376delFs
c.1126delG
1 paper
NM_144688.5
p.I380_R381delFs
c.1140_1143del4
3 papers
NM_144688.5
p.Q382_K383Splc
c.1146+5G>A
1 paper
NM_144688.5
p.G397R
c.1189G>A
1 paper
NM_144688.5
p.G397R
c.1189G>C
1 paper
NM_144688.5
p.E403K
c.1207G>A
1 paper
NM_144688.5
p.A418D
c.1253C>A
1 paper
NM_144688.5
p.Q423_R424Splc
c.1269+2T>A
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