Varaico: Literature-Extracted Genetic Variants

Gene:CNEP1R1

CNEP1R1

6 papers

RefSeq Summary

This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thou...

Pfam Domains

Tmemb_18Aaa 5–122UCSCTransmembrane protein 188

Gene Aliases

HGNC Name

CTD nuclear envelope phosphatase 1 regulatory subunit 1

HGNC Previous Symbols

C16orf69; TMEM188

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001281789.2
p.R15R
c.45G>A
1 paper
NM_001281789.2
p.L24M
c.70T>A
1 paper
NM_001281789.2
p.K57_V58Splc
c.171+1G>A
1 paper
NM_001281789.2
p.T62A
c.184A>G
1 paper
NM_001281789.2
p.L80fs
c.238_239fs
1 paper
NM_001281789.2
p.I94V
c.280A>G
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