Varaico: Literature-Extracted Genetic Variants

Gene:TECR
Variant:p.E5_V6Splc

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.E5_V6Splc
c.16-45C>G
Surrounding Variants
1 paper
NM_138501.6
p.E5_V6Splc
c.16-2A>G
1 paper
NM_138501.6
p.D10A
c.29A>C
1 paper
NM_138501.6
p.L17Q
c.50T>A
1 paper
NM_138501.6
p.K22_V23Splc
c.66+25T>C
1 paper
NM_138501.6
p.P25P
c.75C>A
1 paper
NM_138501.6
p.A27T
c.79G>A
1 paper
NM_138501.6
p.T28I
c.83C>T
1 paper
NM_138501.6
p.I32V
c.94A>G
1 paper
NM_138501.6
p.I32M
c.96C>G
1 paper
NM_138501.6
p.Q42*
c.124C>T
1 paper
NM_138501.6
p.Y44*
c.132C>G
1 paper
NM_138501.6
p.P45R
c.134C>G
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