Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.E414_D419del6

UBC

4,798 papers

RefSeq Summary

This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending...

Pfam Domains

ubiquitinaa 3–74UCSCUbiquitin family
ubiquitinaa 79–150UCSCUbiquitin family
ubiquitinaa 155–226UCSCUbiquitin family
ubiquitinaa 231–302UCSCUbiquitin family
ubiquitinaa 307–378UCSCUbiquitin family
ubiquitinaa 383–454UCSCUbiquitin family

Gene Aliases

HGNC Name

ubiquitin C

HGNC Alias Name

polyubiquitin-C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021009.7
p.E414_D419del6
c.1240_1256del18
Surrounding Variants
2 papers
NM_021009.7
p.D419D
c.1257C>T
1 paper
NM_021009.7
p.Q420R
c.1259A>G
2 papers
NM_021009.7
p.P418S
c.1252C>T
1 paper
NM_021009.7
p.P418A
c.1252C>G
2 papers
NM_021009.7
p.P418_D419insG
c.1252_1256ins3
1 paper
NM_021009.7
p.R422K
c.1265G>A
1 paper
NM_021009.7
p.P417A
c.1249C>G
1 paper
NM_021009.7
p.L423F
c.1269G>T
1 paper
NM_021009.7
p.L423F
c.1269G>C
1 paper
NM_021009.7
p.L423L
c.1269G>A
1 paper
NM_021009.7
p.I424S
c.1271T>G
1 paper
NM_021009.7
p.G415G
c.1245C>G
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