Varaico: Literature-Extracted Genetic Variants

Gene:UBAC2
Variant:p.Y193fs

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
Selected Variant
1 paper
NM_001144072.2
p.Y193fs
c.577_578fs
Surrounding Variants
1 paper
NM_001144072.2
p.Y193_D194delFs
c.579_580delCG
1 paper
NM_001144072.2
p.L191V
c.571C>G
1 paper
NM_001144072.2
p.S189F
c.566C>T
1 paper
NM_001144072.2
p.M210I
c.630G>A
1 paper
NM_001144072.2
p.M210I
c.630G>C
1 paper
NM_001144072.2
p.M210I
c.630G>T
1 paper
NM_001144072.2
p.E219G
c.656A>G
2 papers
NM_001144072.2
p.S223A
c.667T>G
1 paper
NM_001144072.2
p.Q267Q
c.801G>A
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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."