Varaico: Literature-Extracted Genetic Variants

Gene:MYSM1
Variant:p.E536fs

MYSM1

119 papers

Pfam Domains

Myb_DNA-bindingaa 118–163UCSCMyb-like DNA-binding domain
SWIRMaa 374–461UCSCSWIRM domain
JABaa 572–682UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

Gene Aliases

HGNC Name

Myb like, SWIRM and MPN domains 1

HGNC Alias Symbol

KIAA1915

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001085487.3
p.E536fs
c.1606_1607fs
Surrounding Variants
1 paper
NM_001085487.3
p.E536_E537delFs
c.1607_1611del5
1 paper
NM_001085487.3
p.K533E
c.1597A>G
1 paper
NM_001085487.3
p.E524Q
c.1570G>C
1 paper
NM_001085487.3
p.R506Q
c.1517G>A
1 paper
NM_001085487.3
p.M498_R499Splc
c.1495-3C>T
1 paper
NM_001085487.3
p.S555L
c.1664C>T
1 paper
NM_001085487.3
p.Q560R
c.1679A>G
1 paper
NM_001085487.3
p.M498_R499Splc
c.1494+129C>T
1 paper
NM_001085487.3
p.M498V
c.1492A>G
1 paper
NM_001085487.3
p.R494S
c.1480C>A
6 papers
NM_001085487.3
p.Y489*
c.1467C>G
6 papers
NM_001085487.3
p.Y489*
c.1467C>A
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