Varaico: Literature-Extracted Genetic Variants

Gene:UBAP1L
Variant:p.R313H

UBAP1L

33 papers

Pfam Domains

UBA2_UBAP-1aa 340–378UCSCUbiquitin-associated protein 1, UBA2 domain

Gene Aliases

HGNC Name

ubiquitin associated protein 1 like

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001163692.2
p.R313H
c.938G>A
Surrounding Variants
1 paper
NM_001163692.2
p.R316C
c.946C>T
7 papers
NM_001163692.2
p.Q303_F304Splc
c.910-7G>A
1 paper
NM_001163692.2
p.R343H
c.1028G>A
1 paper
NM_001163692.2
p.M351V
c.1051A>G
1 paper
NM_001163692.2
p.L293V
c.877C>G
1 paper
NM_001163692.2
p.R288K
c.863G>A
2 papers
NM_001163692.2
p.R287*
c.859C>T
1 paper
NM_001163692.2
p.L268M
c.802C>A
1 paper
NM_001163692.2
p.D263V
c.788A>T
1 paper
NM_001163692.2
p.A261V
c.782C>T
1 paper
NM_001163692.2
p.H254R
c.761A>G
1 paper
NM_001163692.2
p.P243L
c.728C>T
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