Varaico: Literature-Extracted Genetic Variants

Gene:UFC1
Variant:p.D52E

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
Selected Variant
2 papers
NM_016406.4
p.D52E
c.156T>A
Surrounding Variants
2 papers
NM_016406.4
p.D52E
c.156T>G
1 paper
NM_016406.4
p.D50A
c.149A>C
2 papers
NM_016406.4
p.R55Q
c.164G>A
1 paper
NM_016406.4
p.A49V
c.146C>T
1 paper
NM_016406.4
p.N48fs
c.142_143fs
1 paper
NM_016406.4
p.K47delFs
c.141delG
1 paper
NM_016406.4
p.K47E
c.139A>G
1 paper
NM_016406.4
p.N46K
c.138C>A
1 paper
NM_016406.4
p.N46K
c.138C>G
1 paper
NM_016406.4
p.N59H
c.175A>C
1 paper
NM_016406.4
p.N46_K47del1
c.138_140delCAA
1 paper
NM_016406.4
p.R64W
c.190C>T
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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."