Varaico: Literature-Extracted Genetic Variants

Gene:TMEM230

TMEM230

35 papers

RefSeq Summary

This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be invol...

Pfam Domains

TMEM_230_134aa 2–118UCSCTransmembrane proteins 230/134

Gene Aliases

HGNC Name

transmembrane protein 230

HGNC Previous Symbol

C20orf30

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
3 papers
NM_001009925.2
p.M1V
c.1A>G
2 papers
NM_001009925.2
p.M1I
c.3G>T
2 papers
NM_001009925.2
p.K18I
c.53A>T
2 papers
NM_001009925.2
p.S68L
c.203C>T
2 papers
NM_001009925.2
p.R78L
c.233G>T
1 paper
NM_001009925.2
p.P3R
c.8C>G
1 paper
NM_001009925.2
p.S4F
c.11C>T
1 paper
NM_001009925.2
p.A9P
c.25G>C
1 paper
NM_001009925.2
p.G28_Y29insFs
c.84_85insGC
1 paper
NM_001009925.2
p.Y29C
c.86A>G
1 paper
NM_001009925.2
p.I30insFs
c.89_90ins8
1 paper
NM_001009925.2
p.Q33_F34Splc
c.99+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."