Varaico: Literature-Extracted Genetic Variants

Gene:KASH5

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
1–12 of 109 variants
10 papers
NM_144688.5
p.L535Q
c.1604T>A
8 papers
NM_144688.5
p.A249A
c.747G>A
5 papers
NM_144688.5
p.R327_V328delFs
c.981_982delAG
4 papers
NM_144688.5
p.L197P
c.590T>C
3 papers
NM_144688.5
p.V64M
c.190G>A
3 papers
NM_144688.5
p.Q382_K383Splc
c.1146+5G>A
3 papers
NM_144688.5
p.L535_L536del1
c.1605_1607delGCT
2 papers
NM_144688.5
p.E155A
c.464A>C
2 papers
NM_144688.5
p.V177delFs
c.530delT
2 papers
NM_144688.5
p.A320S
c.958G>T
2 papers
NM_144688.5
p.R327fs
c.979_980fs
2 papers
NM_144688.5
p.E367K
c.1099G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."