Varaico: Literature-Extracted Genetic Variants

Gene:TMCO1
Variant:p.E59delFs

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
2 papers
NM_019026.6
p.E59delFs
c.176_177delCT
Surrounding Variants
1 paper
NM_019026.6
p.E59fs
c.175_176fs
1 paper
NM_019026.6
p.R63*
c.187C>T
1 paper
NM_019026.6
p.R63delFs
c.188_189delTC
1 paper
NM_019026.6
p.K54E
c.160A>G
1 paper
NM_019026.6
p.K66R
c.197A>G
2 papers
NM_019026.6
p.K53M
c.158A>T
1 paper
NM_019026.6
p.E51D
c.153A>T
1 paper
NM_019026.6
p.E51D
c.153A>C
1 paper
NM_019026.6
p.E74V
c.221A>T
1 paper
NM_019026.6
p.S84*
c.251C>G
1 paper
NM_019026.6
p.S84*
c.251C>A
1 paper
NM_019026.6
p.M85_V86Splc
c.256-1G>A
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