Varaico: Literature-Extracted Genetic Variants

Gene:PUS7L
Variant:p.I50V

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.I50V
c.148A>G
Surrounding Variants
1 paper
NM_031292.5
p.D51N
c.151G>A
1 paper
NM_031292.5
p.S29I
c.86G>T
1 paper
NM_031292.5
p.K70_P71insFs
c.210_211insA
1 paper
NM_031292.5
p.P71fs
c.211_212fs
1 paper
NM_031292.5
p.K28Q
c.82A>C
1 paper
NM_031292.5
p.H20H
c.60C>T
1 paper
NM_031292.5
p.S12_S13ins7
c.34_38ins21
1 paper
NM_031292.5
p.K93R
c.278A>G
1 paper
NM_031292.5
p.T5fs
c.13_14fs
1 paper
NM_031292.5
p.D4_T5insFs
c.12_13ins7
1 paper
NM_031292.5
p.E2A
c.5A>C
1 paper
NM_031292.5
p.A122V
c.365C>T
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