Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.V270M

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_001297423.2
p.V270M
c.808G>A
Surrounding Variants
1 paper
NM_001297423.2
p.F269F
c.807C>T
3 papers
NM_032326.4
p.S348L
c.1043C>T
1 paper
NM_032326.4
p.L347P
c.1040T>C
1 paper
NM_032326.4
p.L357P
c.1070T>C
1 paper
NM_001297423.2
p.N263N
c.789C>T
2 papers
NM_032326.4
p.N345_T346delFs
c.1035_1036delCA
2 papers
NM_032326.4
p.Q360L
c.1079A>T
1 paper
NM_001297423.2
p.T280A
c.838A>G
3 papers
NM_032326.4
p.M341T
c.1022T>C
1 paper
NM_032326.4
p.S363L
c.1088C>T
1 paper
NM_032326.4
p.S363S
c.1089G>A
1 paper
NM_032326.4
p.T338A
c.1012A>G
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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."