Varaico: Literature-Extracted Genetic Variants

Gene:CACHD1
Variant:p.R274Q

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.R274Q
c.821G>A
Surrounding Variants
1 paper
NM_020925.4
p.A270V
c.809C>T
1 paper
NM_020925.4
p.E292K
c.874G>A
1 paper
NM_020925.4
p.E260K
c.778G>A
1 paper
NM_020925.4
p.P224T
c.670C>A
1 paper
NM_020925.4
p.R223Q
c.668G>A
1 paper
NM_020925.4
p.V222F
c.664G>T
1 paper
NM_020925.4
p.I217fs
c.649_650fs
1 paper
NM_020925.4
p.P216delFs
c.648delC
1 paper
NM_020925.4
p.R215G
c.643A>G
1 paper
NM_020925.4
p.R213P
c.638G>C
1 paper
NM_020925.4
p.E211K
c.631G>A
1 paper
NM_020925.4
p.F199_P200del2
c.595_599del6
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