Varaico: Literature-Extracted Genetic Variants

Gene:UFM1
Variant:p.F67V

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
Selected Variant
1 paper
NM_016617.4
p.F67V
c.199T>G
Surrounding Variants
1 paper
NM_016617.4
p.F67_H70del4
c.199_209del12
2 papers
NM_016617.4
p.K69R
c.206A>G
1 paper
NM_001286704.2
p.R93Q
c.278G>A
1 paper
NM_016617.4
p.R75L
c.224G>T
1 paper
NM_016617.4
p.R75R
c.225G>A
1 paper
NM_016617.4
p.R79R
c.237A>G
11 papers
NM_016617.4
p.R81C
c.241C>T
1 paper
NM_016617.4
p.G83A
c.248G>C
2 papers
NM_016617.4
p.I57V
c.169A>G
1 paper
NM_016617.4
p.T46K
c.137C>A
1 paper
NM_016617.4
p.A44T
c.130G>A
1 paper
NM_016617.4
p.K41R
c.122A>G
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