Varaico: Literature-Extracted Genetic Variants

Gene:CHERP
Variant:p.Y216C

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
Selected Variant
2 papers
NM_006387.6
p.Y216C
c.647A>G
Surrounding Variants
1 paper
NM_006387.6
p.D220A
c.659A>C
1 paper
NM_006387.6
p.V221M
c.661G>A
2 papers
NM_006387.6
p.G205E
c.614G>A
1 paper
NM_006387.6
p.K177N
c.531G>T
1 paper
NM_006387.6
p.K177N
c.531G>C
1 paper
NM_006387.6
p.S174_A175Splc
c.522+94A>G
1 paper
NM_006387.6
p.S174L
c.521C>T
1 paper
NM_006387.6
p.V139L
c.415G>T
1 paper
NM_006387.6
p.V139L
c.415G>C
1 paper
NM_006387.6
p.Q128_E129Splc
c.385-16C>T
1 paper
NM_006387.6
p.V252M
c.754G>A
1 paper
NM_006387.6
p.K259N
c.777G>T
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