Varaico: Literature-Extracted Genetic Variants

Gene:UFC1

UFC1

52 papers

RefSeq Summary

UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008].

Pfam Domains

UFC1aa 6–160UCSCUbiquitin-fold modifier-conjugating enzyme 1

Gene Aliases

HGNC Name

ubiquitin-fold modifier conjugating enzyme 1

HGNC Alias Symbol

HSPC155

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
13 papers
NM_016406.4
p.T106I
c.317C>T
8 papers
NM_016406.4
p.R23Q
c.68G>A
4 papers
NM_016406.4
p.C116S
c.346T>A
4 papers
NM_016406.4
p.C116S
c.347G>C
2 papers
NM_016406.4
p.A2V
c.5C>T
2 papers
NM_016406.4
p.T6M
c.17C>T
2 papers
NM_016406.4
p.D52E
c.156T>A
2 papers
NM_016406.4
p.D52E
c.156T>G
2 papers
NM_016406.4
p.R55Q
c.164G>A
2 papers
NM_016406.4
p.I82_D85del0
c.244_255del12
2 papers
NM_016406.4
p.D85_I86Splc
c.255+17G>A
2 papers
NM_016406.4
p.T89delFs
c.266_267delCA
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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."