Varaico: Literature-Extracted Genetic Variants

Gene:UBAC2

UBAC2

24 papers

Pfam Domains

UBAaa 305–341UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

UBA domain containing 2

HGNC Previous Symbol

PHGDHL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
2 papers
NM_001144072.2
p.S223A
c.667T>G
1 paper
NM_001144072.2
p.M1L
c.1A>T
1 paper
NM_001144072.2
p.G9A
c.26G>C
1 paper
NM_001144072.2
p.K12T
c.35A>C
1 paper
NM_001144072.2
p.I82T
c.245T>C
1 paper
NM_001144072.2
p.A93_S94Splc
c.279+1G>T
1 paper
NM_001144072.2
p.A93_S94Splc
c.280-1G>C
1 paper
NM_001144072.2
p.W100_D107delFs
c.300_321del22
1 paper
NM_001144072.2
p.N125N
c.375T>C
1 paper
NM_001144072.2
p.F130Splc
c.390-18275C>T
1 paper
NM_001144072.2
p.A151V
c.452C>T
1 paper
NM_001144072.2
p.S158_I159delFs
c.474_475delCA
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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."