Varaico: Literature-Extracted Genetic Variants

Gene:TMEM175
Variant:p.D67A

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.D67A
c.200A>C
Surrounding Variants
1 paper
NM_032326.4
p.D67_R72delFs
c.200_216del17
1 paper
NM_032326.4
p.R68insFs
c.203_204insC
21 papers
NM_032326.4
p.Q65P
c.194A>C
1 paper
NM_032326.4
p.R72insFs
c.215_216insT
1 paper
NM_032326.4
p.L73P
c.218T>C
1 paper
NM_032326.4
p.T76P
c.226A>C
1 paper
NM_032326.4
p.I78T
c.233T>C
1 paper
NM_001297423.2
p.L4F
c.10C>T
1 paper
NM_032326.4
p.V88M
c.262G>A
1 paper
NM_001297423.2
p.V8V
c.24G>A
2 papers
NM_032326.4
p.W92R
c.274T>A
1 paper
NM_032326.4
p.W92*
c.275G>A
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