Varaico: Literature-Extracted Genetic Variants

Gene:TMEM135
Variant:p.K216K

TMEM135

34 papers

Pfam Domains

TMEM135_C_richaa 9–142UCSCN-terminal cysteine-rich region of Transmembrane protein 135
Tim17aa 250–358UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

transmembrane protein 135

HGNC Alias Symbols

FLJ22104; PMP52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022918.4
p.K216K
c.648A>G
Surrounding Variants
6 papers
NM_022918.4
p.G218R
c.652G>A
4 papers
NM_022918.4
p.G218R
c.652G>C
1 paper
NM_022918.4
p.M220I
c.660G>A
1 paper
NM_022918.4
p.M220I
c.660G>C
1 paper
NM_022918.4
p.M220I
c.660G>T
1 paper
NM_022918.4
p.V206E
c.617T>A
1 paper
NM_022918.4
p.R241K
c.722G>A
1 paper
NM_022918.4
p.C254R
c.760T>C
1 paper
NM_022918.4
p.A182E
c.545C>A
1 paper
NM_022918.4
p.Y293_K295delFs
c.879_883del5
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