Varaico: Literature-Extracted Genetic Variants

Gene:TECR
Variant:p.C131R

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.C131R
c.391T>C
Surrounding Variants
1 paper
NM_138501.6
p.F136Y
c.407T>A
1 paper
NM_138501.6
p.L146I
c.436C>A
1 paper
NM_138501.6
p.H149R
c.446A>G
1 paper
NM_138501.6
p.F151I
c.451T>A
1 paper
NM_138501.6
p.T155A
c.463A>G
1 paper
NM_138501.6
p.L158M
c.472T>A
1 paper
NM_138501.6
p.N160D
c.478A>G
1 paper
NM_138501.6
p.F162C
c.485T>G
2 papers
NM_138501.6
p.K163K
c.489G>A
2 papers
NM_138501.6
p.L99P
c.296T>C
1 paper
NM_138501.6
p.A96G
c.287C>G
1 paper
NM_138501.6
p.E94A
c.281A>C
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