Varaico: Literature-Extracted Genetic Variants

Gene:TMEM123
Variant:p.S67delFs

TMEM123

25 papers

RefSeq Summary

This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed...

Pfam Domains

MGC-24aa 92–201UCSCMulti-glycosylated core protein 24 (MGC-24), sialomucin

Gene Aliases

HGNC Name

transmembrane protein 123

HGNC Alias Symbols

PORIMIN; KCT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052932.3
p.S67delFs
c.200delG
Surrounding Variants
4 papers
NM_052932.3
p.V71M
c.211G>A
4 papers
NM_052932.3
p.V86F
c.256G>T
2 papers
NM_052932.3
p.T87P
c.259A>C
2 papers
NM_052932.3
p.T99P
c.295A>C
1 paper
NM_052932.3
p.M107T
c.320T>C
1 paper
NM_052932.3
p.M107I
c.321G>T
1 paper
NM_052932.3
p.M107I
c.321G>C
1 paper
NM_052932.3
p.M107I
c.321G>A
1 paper
NM_052932.3
p.T108_T115delFs
c.323_345del23
1 paper
NM_052932.3
p.T125I
c.374C>T
1 paper
NM_052932.3
p.V135I
c.403G>A
1 paper
NM_052932.3
p.Q127_T134delFs
c.380_402del23
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