Varaico: Literature-Extracted Genetic Variants

Gene:TECR
Variant:p.Y44*

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.Y44*
c.132C>G
Surrounding Variants
1 paper
NM_138501.6
p.P45R
c.134C>G
1 paper
NM_138501.6
p.Q42*
c.124C>T
1 paper
NM_138501.6
p.L50F
c.148C>T
1 paper
NM_138501.6
p.L52Q
c.155T>A
1 paper
NM_138501.6
p.D53Y
c.157G>T
1 paper
NM_138501.6
p.L59L
c.177G>A
1 paper
NM_138501.6
p.A74V
c.221C>T
1 paper
NM_138501.6
p.F78del1
c.232_233delTTC
1 paper
NM_138501.6
p.F78S
c.233T>C
1 paper
NM_138501.6
p.G82A
c.245G>C
1 paper
NM_138501.6
p.Q84*
c.250C>T
1 paper
NM_138501.6
p.E94A
c.281A>C
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