Varaico: Literature-Extracted Genetic Variants

Gene:TMEM138
Variant:p.R103fs

TMEM138

55 papers

RefSeq Summary

This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinate...

Pfam Domains

TMEM138aa 1–98UCSCTransmembrane protein 138
TMEM138aa 38–126UCSCTransmembrane protein 138

Gene Aliases

HGNC Name

transmembrane protein 138

HGNC Alias Symbols

HSPC196; JBTS16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016464.5
p.R103fs
c.307_308fs
Surrounding Variants
1 paper
NM_016464.5
p.N108D
c.322A>G
1 paper
NM_016464.5
p.G115*
c.343G>T
1 paper
NM_016464.5
p.L116F
c.346C>T
2 papers
NM_016464.5
p.M118L
c.352A>C
2 papers
NM_016464.5
p.M118L
c.352A>T
4 papers
NM_016464.5
p.A126T
c.376G>A
1 paper
NM_016464.5
p.A126P
c.376G>C
2 papers
NM_016464.5
p.A126Splc
c.377-3C>G
1 paper
NM_016464.5
p.A126fs
c.376_377fs
1 paper
NM_016464.5
p.A127delFs
c.379delG
3 papers
NM_016464.5
p.A127V
c.380C>T
6 papers
NM_016464.5
p.Y130C
c.389A>G
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