Varaico: Literature-Extracted Genetic Variants

UFD1

43 papers

RefSeq Summary

The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitina...

Pfam Domains

UFD1_N1aa 19–118UCSCUbiquitin fusion degradation protein UFD1, N-terminal subdomain 1

UFD1_N2aa 119–194UCSCUbiquitin fusion degradation protein UFD1, N-terminal subdomain 2

Gene Aliases

HGNC Name

ubiquitin recognition factor in ER associated degradation 1

HGNC Previous Symbol

UFD1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005659.7

p.F2L

c.6C>G

Surrounding Variants

1 paper

NM_005659.7

p.F2L

c.6C>A

1 paper

NM_005659.7

p.F2L

c.4T>C

1 paper

NM_005659.7

p.M6I

c.18G>T

1 paper

NM_005659.7

p.M6I

c.18G>C

1 paper

NM_005659.7

p.M6I

c.18G>A

1 paper

NM_005659.7

p.R13K

c.38G>A

1 paper

NM_005659.7

p.G33W

c.97G>T

1 paper

NM_005659.7

p.P34T

c.100C>A

1 paper

NM_005659.7

p.D39fs

c.115_116fs

1 paper

NM_005659.7

p.D39insFs

c.116_117ins13

1 paper

NM_005659.7

p.M1I

c.3G>T

1 paper

NM_005659.7

p.M1I

c.3G>C