Varaico: Literature-Extracted Genetic Variants

Gene:CPED1
Variant:p.C27*

CPED1

84 papers

Pfam Domains

Cadherin-likeaa 575–667UCSCCadherin-like beta sandwich domain
NXPE4_Caa 747–879UCSCNXPE family member 4-like, C-terminal domain

Gene Aliases

HGNC Name

cadherin like and PC-esterase domain containing 1

HGNC Previous Symbol

C7orf58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_024913.5
p.C27*
c.81T>A
Surrounding Variants
1 paper
NM_024913.5
p.G37delFs
c.111delG
1 paper
NM_024913.5
p.R11Q
c.32G>A
1 paper
NM_024913.5
p.R10C
c.28C>T
1 paper
NM_024913.5
p.V2insFs
c.5_6ins4
1 paper
NM_024913.5
p.F65L
c.193T>C
1 paper
NM_024913.5
p.F65L
c.195C>A
1 paper
NM_024913.5
p.F65L
c.195C>G
4 papers
NM_024913.5
p.T81A
c.241A>G
1 paper
NM_024913.5
p.K83_V84Splc
c.249+4044G>C
1 paper
NM_024913.5
p.K83_V84Splc
c.249+4233G>C
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