Varaico: Literature-Extracted Genetic Variants

Gene:TECR
Variant:p.G257D

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.G257D
c.770G>A
Surrounding Variants
1 paper
NM_138501.6
p.S254P
c.760T>C
1 paper
NM_138501.6
p.Q263insFs
c.787_788insC
2 papers
NM_138501.6
p.P266L
c.797C>T
1 paper
NM_138501.6
p.S271S
c.813C>T
1 paper
NM_138501.6
p.T276N
c.827C>A
1 paper
NM_138501.6
p.M278T
c.833T>C
1 paper
NM_138501.6
p.Y296Y
c.888C>T
1 paper
NM_138501.6
p.F240L
c.720C>A
1 paper
NM_138501.6
p.F240L
c.720C>G
1 paper
NM_138501.6
p.F240L
c.718T>C
1 paper
NM_138501.6
p.F236F
c.708C>T
1 paper
NM_138501.6
p.R226Q
c.677G>A
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