Varaico: Literature-Extracted Genetic Variants

Gene:CHERP
Variant:p.S705Splc

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
1 paper
NM_006387.6
p.S705Splc
c.2114+2T>C
Surrounding Variants
1 paper
NM_006387.6
p.D700N
c.2098G>A
1 paper
NM_006387.6
p.S683I
c.2048G>T
1 paper
NM_006387.6
p.M721L
c.2161A>T
1 paper
NM_006387.6
p.M721L
c.2161A>C
1 paper
NM_006387.6
p.R725W
c.2173C>T
1 paper
NM_006387.6
p.R748C
c.2242C>T
1 paper
NM_006387.6
p.R788H
c.2363G>A
1 paper
NM_006387.6
p.R799Q
c.2396G>A
1 paper
NM_006387.6
p.R812W
c.2434C>T
1 paper
NM_006387.6
p.L658L
c.1974C>G
1 paper
NM_006387.6
p.P651S
c.1951C>T
1 paper
NM_006387.6
p.P651A
c.1951C>G
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