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.R103*

c.307C>T

Surrounding Variants

1 paper

NM_001010874.5

p.R103R

c.307C>A

1 paper

NM_001010874.5

p.R103Q

c.308G>A

1 paper

NM_001010874.5

p.G105A

c.314G>C

1 paper

NM_001010874.5

p.P97L

c.290C>T

1 paper

NM_001010874.5

p.E109K

c.325G>A

1 paper

NM_001010874.5

p.G111C

c.331G>T

19 papers

NM_001010874.5

p.G111Splc

c.331+1G>A

1 paper

NM_001010874.5

p.G111V

c.332G>T

1 paper

NM_001010874.5

p.G112W

c.334G>T

1 paper

NM_001010874.5

p.S123C

c.367A>T

1 paper

NM_001010874.5

p.L132_D136insFs

c.395_408dup14

4 papers

NM_001010874.5

p.Q139*

c.415C>T