Varaico: Literature-Extracted Genetic Variants

Gene:BORCS6
Variant:p.S173N

BORCS6

20 papers

Pfam Domains

BORCS6aa 253–353UCSCBLOC-1-related complex sub-unit 6 C-terminal helix

Gene Aliases

HGNC Name

BLOC-1 related complex subunit 6

HGNC Previous Symbol

C17orf59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017622.3
p.S173N
c.518G>A
Surrounding Variants
1 paper
NM_017622.3
p.G188D
c.563G>A
1 paper
NM_017622.3
p.G192R
c.574G>C
1 paper
NM_017622.3
p.G192R
c.574G>A
2 papers
NM_017622.3
p.E141Q
c.421G>C
1 paper
NM_017622.3
p.R128L
c.383G>T
1 paper
NM_017622.3
p.R109P
c.326G>C
1 paper
NM_017622.3
p.P255_I256insFs
c.765_766insC
1 paper
NM_017622.3
p.P73P
c.219G>A
1 paper
NM_017622.3
p.E49*
c.145G>T
1 paper
NM_017622.3
p.E49K
c.145G>A
1 paper
NM_017622.3
p.E49fs
c.145_146fs
1 paper
NM_017622.3
p.E45D
c.135G>T
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