Varaico: Literature-Extracted Genetic Variants

Gene:CACHD1
Variant:p.S796Splc

CACHD1

61 papers

Pfam Domains

CACHD1_Caa 971–1022UCSCCACHD1 C-terminal domain
CACHD1_Caa 1022–1073UCSCCACHD1 C-terminal domain

Gene Aliases

HGNC Name

cache domain containing 1

HGNC Previous Symbol

VWCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020925.4
p.S796Splc
c.2387+1G>A
Surrounding Variants
1 paper
NM_020925.4
p.N737S
c.2210A>G
1 paper
NM_020925.4
p.A734V
c.2201C>T
1 paper
NM_020925.4
p.T712K
c.2135C>A
1 paper
NM_020925.4
p.A683V
c.2048C>T
1 paper
NM_020925.4
p.T797A
c.2389A>G
1 paper
NM_020925.4
p.V807M
c.2419G>A
1 paper
NM_020925.4
p.V848V
c.2544G>C
1 paper
NM_020925.4
p.A849A
c.2547G>A
1 paper
NM_020925.4
p.M594_V595Splc
c.1783-1G>A
1 paper
NM_020925.4
p.V916L
c.2746G>C
1 paper
NM_020925.4
p.V916L
c.2746G>T
1 paper
NM_020925.4
p.R963*
c.2887C>T
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