Varaico: Literature-Extracted Genetic Variants

TECRL

81 papers

RefSeq Summary

The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belo...

Pfam Domains

TECR_Naa 60–136UCSCTECR, ubiquitin-like domain

Steroid_dhaa 210–324UCSC3-oxo-5-alpha-steroid 4-dehydrogenase

Gene Aliases

HGNC Name

trans-2,3-enoyl-CoA reductase like

HGNC Alias Symbols

GPSN2L; SRD5A2L2; DKFZp313D0829; DKFZp313B2333; TERL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001010874.5

p.S309*

c.926C>G

Surrounding Variants

4 papers

NM_001010874.5

p.S309*

c.926C>A

1 paper

NM_001010874.5

p.T314P

c.940A>C

1 paper

NM_001010874.5

p.E306_I307Splc

c.918+38C>T

1 paper

NM_001010874.5

p.E306_I307Splc

c.918+3A>C

1 paper

NM_001010874.5

p.E306*

c.916G>T

3 papers

NM_001010874.5

p.Y305*

c.915T>G

3 papers

NM_001010874.5

p.Y305*

c.915T>A

2 papers

NM_001010874.5

p.Y303C

c.908A>G

1 paper

NM_001010874.5

p.S299*

c.896C>A

4 papers

NM_001010874.5

p.V298A

c.893T>C

5 papers

NM_001010874.5

p.P290H

c.869C>A

2 papers

NM_001010874.5

p.P290S

c.868C>T