Varaico: Literature-Extracted Genetic Variants

Gene:TMEM231
Variant:p.L118V

TMEM231

60 papers

RefSeq Summary

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause...

Pfam Domains

TM231aa 1–301UCSCTransmembrane protein 231

Gene Aliases

HGNC Name

transmembrane protein 231

HGNC Alias Symbols

FLJ22167; ALYE870; PRO1886; JBTS20; MKS11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077418.3
p.L118V
c.352T>G
Surrounding Variants
5 papers
NM_001077418.3
p.P125A
c.373C>G
NM_001077416.2
p.P178A
c.532C>G
2 papers
NM_001077418.3
p.E106K
c.316G>A
1 paper
NM_001077416.2
p.S195F
c.584C>T
1 paper
NM_001077418.3
p.S142C
c.425C>G
1 paper
NM_001077418.3
p.H146_R147Splc
c.438+1G>C
5 papers
NM_001077416.2
p.H199_R200Splc
c.597+1G>A
NM_001077418.3
p.H146_R147Splc
c.438+1G>A
2 papers
NM_001077418.3
p.H146_R147Splc
c.439-1G>C
1 paper
NM_001077418.3
p.Q154E
c.460C>G
1 paper
NM_001077416.2
p.P219L
c.656C>T
1 paper
NM_001077418.3
p.Y171D
c.511T>G
1 paper
NM_001077418.3
p.L178V
c.532C>G
1 paper
NM_001077418.3
p.Q179*
c.535C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."