Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.L323L

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.L323L
c.969G>A
Surrounding Variants
1 paper
NM_032326.4
p.L323V
c.967C>G
1 paper
NM_032326.4
p.A326V
c.977C>T
1 paper
NM_032326.4
p.S316T
c.946T>A
1 paper
NM_032326.4
p.L332L
c.994C>T
2 papers
NM_032326.4
p.R335H
c.1004G>A
1 paper
NM_001297423.2
p.R227R
c.681C>T
1 paper
NM_032326.4
p.F310_L311del2
c.928_932del6
1 paper
NM_032326.4
p.T338A
c.1012A>G
4 papers
NM_032326.4
p.P308L
c.923C>T
3 papers
NM_032326.4
p.M341T
c.1022T>C
1 paper
NM_032326.4
p.A305A
c.915G>A
1 paper
NM_032326.4
p.S304S
c.912T>C
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