Varaico: Literature-Extracted Genetic Variants

Gene:PUS7L
Variant:p.L321fs

PUS7L

44 papers

Pfam Domains

PUS7L_Naa 123–205UCSCPUS7L N-terminal domain
PUS7L_Naa 123–205UCSCPUS7L N-terminal domain
R3H_PUS7Laa 206–279UCSCPUS7L R3H domain
R3H_PUS7Laa 206–279UCSCPUS7L R3H domain
TruDaa 280–696UCSCtRNA pseudouridine synthase D (TruD)

Gene Aliases

HGNC Name

pseudouridine synthase 7 like

HGNC Alias Symbol

DKFZP434G1415

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031292.5
p.L321fs
c.961_962fs
Surrounding Variants
1 paper
NM_031292.5
p.A317V
c.950C>T
1 paper
NM_031292.5
p.R308*
c.922C>T
1 paper
NM_031292.5
p.V349F
c.1045G>T
1 paper
NM_031292.5
p.S381F
c.1142C>T
1 paper
NM_031292.5
p.V420G
c.1259T>G
1 paper
NM_031292.5
p.R290K
c.869G>A
1 paper
NM_031292.5
p.A284fs
c.850_851fs
1 paper
NM_031292.5
p.K283insFs
c.849dupA
1 paper
NM_031292.5
p.P272L
c.815C>T
2 papers
NM_031292.5
p.K264E
c.790A>G
1 paper
NM_031292.5
p.F231V
c.691T>G
1 paper
NM_031292.5
p.V426fs
c.1276_1277fs
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