Varaico: Literature-Extracted Genetic Variants

Gene:TECR
Variant:p.E5Q

TECR

166 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fa...

Pfam Domains

TECR_Naa 4–80UCSCTECR, ubiquitin-like domain
Steroid_dhaa 154–308UCSC3-oxo-5-alpha-steroid 4-dehydrogenase

Gene Aliases

HGNC Name

trans-2,3-enoyl-CoA reductase

HGNC Previous Symbols

SC2; GPSN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138501.6
p.E5Q
c.13G>C
Surrounding Variants
1 paper
NM_138501.6
p.K2N
c.6G>C
1 paper
NM_138501.6
p.K2N
c.6G>T
2 papers
NM_138501.6
p.M1T
c.2T>C
1 paper
NM_138501.6
p.M1insFs
c.2dupT
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