Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.T490M

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
2 papers
NM_032326.4
p.T490M
c.1469C>T
Surrounding Variants
1 paper
NM_032326.4
p.A488P
c.1462G>C
1 paper
NM_001297423.2
p.P405A
c.1213C>G
1 paper
NM_001297423.2
p.Q414*
c.1240C>T
1 paper
NM_032326.4
p.Q498Q
c.1494G>A
3 papers
NM_032326.4
p.R481W
c.1441C>T
1 paper
NM_001297423.2
p.V393A
c.1178T>C
1 paper
NM_032326.4
p.V455M
c.1363G>A
1 paper
NM_001297423.2
p.V363V
c.1089G>A
1 paper
NM_032326.4
p.F443L
c.1329C>A
1 paper
NM_032326.4
p.F443L
c.1329C>G
1 paper
NM_032326.4
p.F443L
c.1327T>C
1 paper
NM_032326.4
p.S430_L431del2
c.1288_1292del6
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