Varaico: Literature-Extracted Genetic Variants

Gene:TMEM270
Variant:p.W78R

TMEM270

24 papers

Pfam Domains

WBS28aa 1–265UCSCWilliams-Beuren syndrome chromosomal region 28 protein homologue

Gene Aliases

HGNC Name

transmembrane protein 270

HGNC Previous Symbol

WBSCR28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182504.4
p.W78R
c.232T>A
Surrounding Variants
2 papers
NM_182504.4
p.W78R
c.232T>C
1 paper
NM_182504.4
p.G80R
c.238G>A
1 paper
NM_182504.4
p.G80R
c.238G>C
1 paper
NM_182504.4
p.L73L
c.219G>T
1 paper
NM_182504.4
p.P87L
c.260C>T
1 paper
NM_182504.4
p.C58Y
c.173G>A
1 paper
NM_182504.4
p.R55W
c.163C>T
1 paper
NM_182504.4
p.I40I
c.120C>T
1 paper
NM_182504.4
p.L37L
c.111C>T
1 paper
NM_182504.4
p.L122M
c.364C>A
1 paper
NM_182504.4
p.W127*
c.380G>A
1 paper
NM_182504.4
p.M139I
c.417G>A
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