Varaico: Literature-Extracted Genetic Variants

Gene:UBE4B
Variant:p.L633V

UBE4B

119 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

Ufd2P_coreaa 591–1212UCSCUbiquitin elongating factor core
U-boxaa 1228–1299UCSCU-box domain

Gene Aliases

HGNC Name

ubiquitination factor E4B

HGNC Alias Symbols

UBOX3; E4; UFD2; KIAA0684

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105562.3
p.L633V
c.1897T>G
Surrounding Variants
1 paper
NM_001105562.3
p.L633_E634delFs
c.1899_1900delAG
1 paper
NM_001105562.3
p.G614V
c.1841G>T
2 papers
NM_001105562.3
p.S613*
c.1838C>A
2 papers
NM_001105562.3
p.S613*
c.1838C>G
1 paper
NM_001105562.3
p.D604_V605Splc
c.1812+47C>A
1 paper
NM_001105562.3
p.D604Y
c.1810G>T
1 paper
NM_001105562.3
p.P574S
c.1720C>T
1 paper
NM_001105562.3
p.L571F
c.1713G>C
1 paper
NM_001105562.3
p.L571F
c.1713G>T
1 paper
NM_001105562.3
p.R570Q
c.1709G>A
1 paper
NM_001105562.3
p.I643F
c.1927A>T
1 paper
NM_001105562.3
p.E655E
c.1965G>A
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