Varaico: Literature-Extracted Genetic Variants

Gene:CPED1
Variant:p.L448S

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
1 paper
NM_024913.5
p.L448S
c.1343T>C
Surrounding Variants
1 paper
NM_024913.5
p.E460K
c.1378G>A
1 paper
NM_024913.5
p.L427L
c.1281T>C
1 paper
NM_024913.5
p.L427H
c.1280T>A
1 paper
NM_024913.5
p.I423T
c.1268T>C
1 paper
NM_024913.5
p.D405fs
c.1213_1214fs
1 paper
NM_024913.5
p.F393L
c.1179T>A
1 paper
NM_024913.5
p.F393L
c.1179T>G
1 paper
NM_024913.5
p.F393L
c.1177T>C
1 paper
NM_024913.5
p.Q386*
c.1156C>T
1 paper
NM_024913.5
p.H380H
c.1140C>T
1 paper
NM_024913.5
p.P491A
c.1471C>G
1 paper
NM_024913.5
p.Q501K
c.1501C>A
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