Varaico: Literature-Extracted Genetic Variants

Gene:TMCO1
Variant:p.I154N

TMCO1

46 papers

RefSeq Summary

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also ...

Pfam Domains

EMC3_TMCO1aa 2–154UCSCIntegral membrane protein EMC3/TMCO1-like

Gene Aliases

HGNC Name

transmembrane and coiled-coil domains 1

HGNC Previous Symbol

TMCC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019026.6
p.I154N
c.461T>A
Surrounding Variants
1 paper
NM_019026.6
p.R155*
c.463C>T
1 paper
NM_019026.6
p.T139_D140del2
c.415_419del6
2 papers
NM_019026.6
p.D140A
c.419A>C
1 paper
NM_019026.6
p.Q126L
c.377A>T
1 paper
NM_019026.6
p.P118delFs
c.353delG
1 paper
NM_019026.6
p.P118L
c.353C>T
4 papers
NM_019026.6
p.I108Splc
c.323+3G>C
1 paper
NM_019026.6
p.L101_M102del2
c.301_305del6
3 papers
NM_019026.6
p.F98delFs
c.292_293delAA
7 papers
NM_019026.6
p.R87*
c.259C>T
1 paper
NM_019026.6
p.M85_V86Splc
c.256-1G>A
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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."