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

1–12 of 73 variants

20 papers

NM_001010874.5

p.R196Q

c.587G>A

19 papers

NM_001010874.5

p.G111Splc

c.331+1G>A

5 papers

NM_001010874.5

p.P290H

c.869C>A

4 papers

NM_001010874.5

p.R103*

c.307C>T

4 papers

NM_001010874.5

p.Q139*

c.415C>T

4 papers

NM_001010874.5

p.R248fs

c.742_743fs

4 papers

NM_001010874.5

p.R248_S253delFs

c.742_758del17

4 papers

NM_001010874.5

p.V298A

c.893T>C

4 papers

NM_001010874.5

p.S309*

c.926C>G

4 papers

NM_001010874.5

p.S309*

c.926C>A

3 papers

NM_001010874.5

p.Y197*

c.591C>G

3 papers

NM_001010874.5

p.Y197*

c.591C>A