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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMCO1

Variant:p.R168Q

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:165728087 C>T

NM_019026.6

p.R168Q

c.503G>A

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)209 overlapping SVs

Surrounding Variants

1 paper

chr1:165728104 G>A

NM_019026.6

p.L162L

c.486C>T

EMC3_TMCO1

Exome: 3.6% (AC=52521, hom=1114)Genome: 2.9% (AC=4421, hom=107)209 overlapping SVs

1 paper

chr1:165728104 G>C

NM_019026.6

p.L162L

c.486C>G

EMC3_TMCO1

exact variant not in gnomAD209 overlapping SVs

2 papers

chr1:165728058 GAAATCC>G

NM_019026.6

p.G176_F177del2

c.526_530del6

exact variant not in gnomAD209 overlapping SVs

1 paper

chr1:165728046 G>GTGGT

NM_019026.6

p.P180_P181insFs

c.540_543dup4

exact variant not in gnomAD209 overlapping SVs

1 paper

chr1:165728022 TTCAAGA>T

NM_019026.6

p.S188_*189del2

c.562_566del6

exact variant not in gnomAD209 overlapping SVs

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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."