Varaico: Literature-Extracted Genetic Variants

Gene:BUD13
Variant:p.H220Q

BUD13

77 papers

Pfam Domains

Bud13aa 460–602UCSCPre-mRNA-splicing factor of RES complex

Gene Aliases

HGNC Name

BUD13 spliceosome associated protein

HGNC Alias Symbols

MGC13125; fSAP71; Cwc26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032725.4
p.H220Q
c.660T>G
Surrounding Variants
1 paper
NM_032725.4
p.R217K
c.650G>A
1 paper
NM_032725.4
p.A213T
c.637G>A
1 paper
NM_032725.4
p.R230*
c.688C>T
2 papers
NM_032725.4
p.R230Q
c.689G>A
1 paper
NM_032725.4
p.R232C
c.694C>T
1 paper
NM_032725.4
p.P203fs
c.607_608fs
4 papers
NM_032725.4
p.R242I
c.725G>T
1 paper
NM_032725.4
p.H195R
c.584A>G
2 papers
NM_032725.4
p.R194H
c.581G>A
1 paper
NM_032725.4
p.P190S
c.568C>T
1 paper
NM_032725.4
p.R253G
c.757A>G
1 paper
NM_032725.4
p.R181H
c.542G>A
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