Varaico: Literature-Extracted Genetic Variants

Gene:TMCO1
Variant:p.S47delFs

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
7 papers
NM_019026.6
p.S47delFs
c.139_140delCT
Surrounding Variants
1 paper
NM_019026.6
p.E44D
c.132A>C
1 paper
NM_019026.6
p.D34_K40delFs
c.100_118del19
1 paper
NM_019026.6
p.D34delFs
c.101_102delGT
1 paper
NM_019026.6
p.W27*
c.81G>A
1 paper
NM_019026.6
p.W27*
c.80G>A
1 paper
NM_019026.6
p.G24delFs
c.72delG
1 paper
NM_019026.6
p.G24G
c.72C>G
1 paper
NM_019026.6
p.G24Splc
c.70+200G>A
1 paper
NM_019026.6
p.A22T
c.64G>A
1 paper
NM_019026.6
p.T18M
c.53C>T
1 paper
NM_019026.6
p.S15S
c.45T>C
1 paper
NM_019026.6
p.V12delFs
c.35delA
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