Varaico: Literature-Extracted Genetic Variants

Gene:UFM1

UFM1

41 papers

RefSeq Summary

UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to...

Pfam Domains

Ufm1aa 3–77UCSCUbiquitin fold modifier 1 protein

Gene Aliases

HGNC Name

ubiquitin fold modifier 1

HGNC Previous Symbol

C13orf20

Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
11 papers
NM_016617.4
p.R81C
c.241C>T
2 papers
NM_016617.4
p.M1T
c.2T>C
2 papers
NM_016617.4
p.I57V
c.169A>G
2 papers
NM_016617.4
p.K69R
c.206A>G
1 paper
NM_016617.4
p.M1V
c.1A>G
1 paper
NM_016617.4
p.M1I
c.3G>T
1 paper
NM_016617.4
p.K3R
c.8A>G
1 paper
NM_016617.4
p.K3N
c.9G>C
1 paper
NM_016617.4
p.K3N
c.9G>T
1 paper
NM_016617.4
p.K7R
c.20A>G
1 paper
NM_016617.4
p.T11S
c.31A>T
1 paper
NM_016617.4
p.D13E
c.39C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."