Varaico: Literature-Extracted Genetic Variants

Gene:UFC1
Variant:p.G67_W70del4

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.G67_W70del4
c.199_209del12
Surrounding Variants
1 paper
NM_016406.4
p.W65R
c.193T>A
1 paper
NM_016406.4
p.W65R
c.193T>C
1 paper
NM_016406.4
p.C69S
c.205T>A
1 paper
NM_016406.4
p.C69S
c.206G>C
1 paper
NM_016406.4
p.W70G
c.208T>G
1 paper
NM_016406.4
p.R64Splc
c.192-6T>C
1 paper
NM_016406.4
p.D74N
c.220G>A
1 paper
NM_016406.4
p.L75F
c.223C>T
2 papers
NM_016406.4
p.I82_D85del0
c.244_255del12
1 paper
NM_016406.4
p.I82I
c.246C>T
1 paper
NM_016406.4
p.E83K
c.247G>A
2 papers
NM_016406.4
p.D85_I86Splc
c.255+17G>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."