Varaico: Literature-Extracted Genetic Variants

Gene:BORCS8
Variant:p.K50E

BORCS8

10 papers

Pfam Domains

BORCS8aa 3–113UCSCBLOC-1-related complex sub-unit 8

Gene Aliases

HGNC Name

BLOC-1 related complex subunit 8

HGNC Previous Symbol

MEF2BNB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145784.2
p.K50E
c.148A>G
Surrounding Variants
1 paper
NM_001145784.2
p.P44A
c.130C>G
2 papers
NM_001145784.2
p.S42P
c.124T>C
1 paper
NM_001145784.2
p.R34W
c.100C>T
1 paper
NM_001145784.2
p.V30M
c.88G>A
2 papers
NM_001145784.2
p.S29P
c.85T>C
2 papers
NM_001145784.2
p.N26fs
c.76_77fs
2 papers
NM_001145784.2
p.L24_A25insFs
c.71_75dup5
2 papers
NM_001145784.2
p.T66P
c.196A>C
1 paper
NM_001145784.2
p.Y69S
c.206A>C
1 paper
NM_001145784.2
p.R85H
c.254G>A
1 paper
NM_001145784.2
p.V87M
c.259G>A
1 paper
NM_001145784.2
p.*120*
c.359G>A
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