Varaico: Literature-Extracted Genetic Variants

Gene:CHERP
Variant:p.Q335_Q336del2

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.Q335_Q336del2
c.1003_1007del6
Surrounding Variants
5 papers
NM_006387.6
p.Q330del1
c.988_989delCTG
1 paper
NM_006387.6
p.Q336_Q341del0
c.1008_1022del15
3 papers
NM_006387.6
p.Q341del1
c.1021_1022delCTG
1 paper
NM_006387.6
p.Q320*
c.958C>T
1 paper
NM_006387.6
p.P368L
c.1103C>T
1 paper
NM_006387.6
p.P371L
c.1112C>T
1 paper
NM_006387.6
p.E298*
c.892G>T
1 paper
NM_006387.6
p.T294_L295ins14
c.880_884ins42
1 paper
NM_006387.6
p.R262_L263Splc
c.786+3G>T
1 paper
NM_006387.6
p.R262Q
c.785G>A
1 paper
NM_006387.6
p.K259N
c.777G>T
1 paper
NM_006387.6
p.K259N
c.777G>C
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