Varaico: Literature-Extracted Genetic Variants

Gene:PUS7L
Variant:p.T665M

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
2 papers
NM_031292.5
p.T665M
c.1994C>T
Surrounding Variants
1 paper
NM_031292.5
p.H669Y
c.2005C>T
1 paper
NM_031292.5
p.L675S
c.2024T>C
1 paper
NM_031292.5
p.D684H
c.2050G>C
1 paper
NM_031292.5
p.P597fs
c.1789_1790fs
1 paper
NM_031292.5
p.P597delFs
c.1790delG
1 paper
NM_031292.5
p.Y589H
c.1765T>C
1 paper
NM_031292.5
p.D565N
c.1693G>A
1 paper
NM_031292.5
p.E548V
c.1643A>T
3 papers
NM_031292.5
p.R527C
c.1579C>T
2 papers
NM_031292.5
p.R507C
c.1519C>T
1 paper
NM_031292.5
p.D468N
c.1402G>A
1 paper
NM_031292.5
p.T463K
c.1388C>A
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