Varaico: Literature-Extracted Genetic Variants

Gene:UFC1
Variant:p.A94fs

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
1 paper
NM_016406.4
p.A94fs
c.280_281fs
Surrounding Variants
2 papers
NM_016406.4
p.A94insFs
c.281dupC
1 paper
NM_016406.4
p.P95S
c.283C>T
1 paper
NM_016406.4
p.E96_I97del2
c.286_290del6
1 paper
NM_016406.4
p.E96fs
c.286_287fs
1 paper
NM_016406.4
p.P91R
c.272C>G
1 paper
NM_016406.4
p.A98T
c.292G>A
2 papers
NM_016406.4
p.T89fs
c.265_266fs
2 papers
NM_016406.4
p.T89delFs
c.266_267delCA
1 paper
NM_016406.4
p.D103Y
c.307G>T
1 paper
NM_016406.4
p.G104*
c.310G>T
1 paper
NM_016406.4
p.T106A
c.316A>G
1 paper
NM_016406.4
p.T106S
c.316A>T
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