Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.S241L

TMEM175

111 papers

Pfam Domains

TMEM175aa 1–42UCSCEndosomal/lysosomal potassium channel TMEM175
TMEM175aa 35–124UCSCEndosomal/lysosomal potassium channel TMEM175
TMEM175aa 35–124UCSCEndosomal/lysosomal potassium channel TMEM175
TMEM175aa 178–274UCSCEndosomal/lysosomal potassium channel TMEM175
TMEM175aa 260–356UCSCEndosomal/lysosomal potassium channel TMEM175

Gene Aliases

HGNC Name

transmembrane protein 175

HGNC Alias Symbol

MGC4618

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032326.4
p.S241L
c.722C>T
Surrounding Variants
1 paper
NM_032326.4
p.S241A
c.721T>G
1 paper
NM_032326.4
p.H243L
c.728A>T
1 paper
NM_032326.4
p.P244L
c.731C>T
1 paper
NM_032326.4
p.F250Y
c.749T>A
1 paper
NM_032326.4
p.E254K
c.760G>A
1 paper
NM_032326.4
p.R260C
c.778C>T
1 paper
NM_032326.4
p.V261G
c.782T>G
1 paper
NM_032326.4
p.E262K
c.784G>A
2 papers
NM_032326.4
p.A263A
c.789C>T
1 paper
NM_032326.4
p.G267R
c.799G>A
1 paper
NM_032326.4
p.G267R
c.799G>C
1 paper
NM_032326.4
p.Y269Y
c.807C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."