Varaico: Literature-Extracted Genetic Variants

Gene:CACHD1

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
1–12 of 64 variants
3 papers
NM_020925.4
p.L118P
c.353T>C
2 papers
NM_020925.4
p.G409S
c.1225G>A
1 paper
NM_020925.4
p.R16Q
c.47G>A
1 paper
NM_020925.4
p.R54W
c.160A>T
1 paper
NM_020925.4
p.E59K
c.175G>A
1 paper
NM_020925.4
p.R67delFs
c.199_200delCG
1 paper
NM_020925.4
p.T75S
c.223A>T
1 paper
NM_020925.4
p.T75S
c.224C>G
1 paper
NM_020925.4
p.Q87_L88Splc
c.261+2T>C
1 paper
NM_020925.4
p.I92insFs
c.274dupA
1 paper
NM_020925.4
p.I92fs
c.274_275fs
1 paper
NM_020925.4
p.R93*
c.277C>T
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