Varaico: Literature-Extracted Genetic Variants

Gene:UBAP2
Variant:p.V293V

UBAP2

71 papers

RefSeq Summary

The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression ...

Pfam Domains

UBA_UBAP2aa 49–103UCSCUbiquitin-associated protein 2, UBA domain
UBAP2-Ligaa 512–544UCSCUBAP2/protein lingerer

Gene Aliases

HGNC Name

ubiquitin associated protein 2

HGNC Alias Symbols

KIAA1491; bA176F3.5; FLJ22435

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370062.2
p.V293V
c.879A>G
Surrounding Variants
1 paper
NM_001370062.2
p.Q333*
c.997C>T
1 paper
NM_001370062.2
p.H283N
c.847C>A
1 paper
NM_001370062.2
p.S353L
c.1058C>T
1 paper
NM_001370062.2
p.K367delFs
c.1100delT
1 paper
NM_001370062.2
p.D409_L410insFs
c.1227_1228dupCC
1 paper
NM_001370062.2
p.T264I
c.791C>T
1 paper
NM_001370062.2
p.S458S
c.1374C>T
2 papers
NM_001370062.2
p.I488T
c.1463T>C
2 papers
NM_001370062.2
p.H496P
c.1487A>C
1 paper
NM_001370062.2
p.S552*
c.1655C>G
1 paper
NM_001370062.2
p.S556delFs
c.1666_1667delCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."