Varaico: Literature-Extracted Genetic Variants

Gene:TMEM230
Variant:p.P81A

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
Selected Variant
1 paper
NM_001009925.2
p.P81A
c.241C>G
Surrounding Variants
2 papers
NM_001009925.2
p.R78L
c.233G>T
1 paper
NM_001009925.2
p.G86C
c.256G>T
1 paper
NM_001009925.2
p.V89_F90ins8
c.265_269ins24
1 paper
NM_001009925.2
p.G93V
c.278G>T
1 paper
NM_001009925.2
p.I99T
c.296T>C
1 paper
NM_001009925.2
p.Y102*
c.306T>A
1 paper
NM_001009925.2
p.Y70delFs
c.209delT
1 paper
NM_001009925.2
p.Y70C
c.209A>G
2 papers
NM_001009925.2
p.S68L
c.203C>T
1 paper
NM_001009925.2
p.I55F
c.163A>T
1 paper
NM_001009925.2
p.T50P
c.148A>C
1 paper
NM_001009925.2
p.Q33_F34Splc
c.99+1G>A
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