Varaico: Literature-Extracted Genetic Variants

Gene:CHERP

CHERP

78 papers

Pfam Domains

Surpaa 13–62UCSCSurp module
CIDaa 159–281UCSCCID domain
DUF7819aa 636–743UCSCDomain of unknown function (DUF7819)
G-patchaa 841–889UCSCG-patch domain

Gene Aliases

HGNC Name

calcium homeostasis endoplasmic reticulum protein

HGNC Alias Symbols

ERPROT213-21; DAN16

Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
5 papers
NM_006387.6
p.Q330del1
c.988_989delCTG
3 papers
NM_006387.6
p.Q341del1
c.1021_1022delCTG
2 papers
NM_006387.6
p.G205E
c.614G>A
2 papers
NM_006387.6
p.Y216C
c.647A>G
2 papers
NM_006387.6
p.S830L
c.2489C>T
1 paper
NM_006387.6
p.D9Splc
c.26-4C>G
1 paper
NM_006387.6
p.R13P
c.38G>C
1 paper
NM_006387.6
p.K32*
c.94A>T
1 paper
NM_006387.6
p.P74P
c.222G>A
1 paper
NM_006387.6
p.T81S
c.242C>G
1 paper
NM_006387.6
p.A93T
c.277G>A
1 paper
NM_006387.6
p.A94T
c.280G>A
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