Varaico: Literature-Extracted Genetic Variants

Gene:UBE2Q1
Variant:p.V136G

UBE2Q1

34 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

UQ_conaa 310–409UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 Q1

HGNC Alias Symbols

PRO3094; NICE-5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017582.7
p.V136G
c.407T>G
Surrounding Variants
1 paper
NM_017582.7
p.K139fs
c.415_416fs
1 paper
NM_017582.7
p.K139delFs
c.416delT
1 paper
NM_017582.7
p.D191H
c.571G>C
1 paper
NM_017582.7
p.E193del1
c.577_578delCTC
1 paper
NM_017582.7
p.E196_D197Splc
c.588+140T>C
1 paper
NM_017582.7
p.G95E
c.284G>A
1 paper
NM_017582.7
p.P93S
c.277C>T
1 paper
NM_017582.7
p.A86S
c.256G>T
1 paper
NM_017582.7
p.A85fs
c.253_254fs
1 paper
NM_017582.7
p.E72K
c.214G>A
1 paper
NM_017582.7
p.E68K
c.202G>A
1 paper
NM_017582.7
p.C65delFs
c.193delA
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