Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.S430_L431del2

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.S430_L431del2
c.1288_1292del6
Surrounding Variants
1 paper
NM_032326.4
p.A429fs
c.1285_1286fs
3 papers
NM_032326.4
p.P427_C428delFs
c.1281_1282delCT
3 papers
NM_032326.4
p.P427fs
c.1279_1280fs
1 paper
NM_032326.4
p.A424V
c.1271C>T
1 paper
NM_001297423.2
p.L341P
c.1022T>C
1 paper
NM_032326.4
p.F443L
c.1327T>C
1 paper
NM_032326.4
p.F443L
c.1329C>A
1 paper
NM_032326.4
p.F443L
c.1329C>G
2 papers
NM_032326.4
p.R414W
c.1240C>T
1 paper
NM_001297423.2
p.V363V
c.1089G>A
1 paper
NM_032326.4
p.F411L
c.1233T>A
1 paper
NM_032326.4
p.F411L
c.1233T>G
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."