Varaico: Literature-Extracted Genetic Variants

SEL1L

132 papers

RefSeq Summary

The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they a...

Pfam Domains

fn2aa 127–168UCSCFibronectin type II domain

Sel1aa 183–218UCSCSel1 repeat

Sel1aa 219–254UCSCSel1 repeat

Sel1aa 255–290UCSCSel1 repeat

Sel1aa 291–324UCSCSel1 repeat

Sel1aa 373–409UCSCSel1 repeat

Gene Aliases

HGNC Name

SEL1L adaptor subunit of SYVN1 ubiquitin ligase

HGNC Alias Symbols

IBD2; SEL1L1; Hrd3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 119 variants

19 papers

NM_005065.6

p.S658P

c.1972T>C

10 papers

NM_005065.6

p.C141Y

c.422G>A

8 papers

NM_005065.6

p.G585D

c.1754G>A

6 papers

NM_005065.6

p.G57S

c.169G>A

6 papers

NM_005065.6

p.M528R

c.1583T>G

4 papers

NM_005065.6

p.D162G

c.485A>G

3 papers

NM_005065.6

p.I604V

c.1810A>G

2 papers

NM_005065.6

p.E182K

c.544G>A

2 papers

NM_005065.6

p.A322D

c.965C>A

2 papers

NM_005065.6

p.S658A

c.1972T>G

2 papers

NM_005065.6

p.F668S

c.2003T>C

2 papers

NM_005065.6

p.F668Y

c.2003T>A