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

1 paper

NM_001010874.5

p.H184R

c.551A>G

Surrounding Variants

1 paper

NM_001010874.5

p.R196*

c.586C>T

20 papers

NM_001010874.5

p.R196Q

c.587G>A

3 papers

NM_001010874.5

p.Y197*

c.591C>G

3 papers

NM_001010874.5

p.Y197*

c.591C>A

1 paper

NM_001010874.5

p.L198fs

c.592_593fs

3 papers

NM_001010874.5

p.L198delFs

c.592delG

2 papers

NM_001010874.5

p.M219_S220Splc

c.658-2A>G

1 paper

NM_001010874.5

p.W225*

c.674G>A

1 paper

NM_001010874.5

p.W225*

c.675G>A

1 paper

NM_001010874.5

p.H184R

c.551A>G

1 paper

NM_001010874.5

p.H180Y

c.538C>T

1 paper

NM_001010874.5

p.R179H

c.536G>A