Varaico: Literature-Extracted Genetic Variants

Gene:BSDC1
Variant:p.S68*

BSDC1

27 papers

Pfam Domains

BSDaa 146–203UCSCBSD domain
BSDaa 146–203UCSCBSD domain

Gene Aliases

HGNC Name

BSD domain containing 1

HGNC Alias Symbols

FLJ10276; RP4-811H24.7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018045.8
p.S68*
c.203C>G
Surrounding Variants
1 paper
NM_018045.8
p.S68*
c.203C>A
1 paper
NM_018045.8
p.K75*
c.223A>T
1 paper
NM_018045.8
p.G83R
c.247G>C
1 paper
NM_018045.8
p.G83R
c.247G>A
1 paper
NM_018045.8
p.G83V
c.248G>T
1 paper
NM_018045.8
p.S86_D87del2
c.256_260del6
1 paper
NM_018045.8
p.T107I
c.320C>T
1 paper
NM_018045.8
p.E113G
c.338A>G
1 paper
NM_018045.8
p.S124S
c.372C>T
1 paper
NM_018045.8
p.S127L
c.380C>T
1 paper
NM_018045.8
p.A63_T64Splc
c.189+7A>G
1 paper
NM_018045.8
p.T54M
c.161C>T
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