Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.V195insFs

RBCK1

154 papers

Pfam Domains

LTMaa 10–51UCSCLUBAC thetering domain
LTMaa 10–51UCSCLUBAC thetering domain
zf-RING_UBOXaa 282–324UCSCRING-type zinc-finger
zf-RING_UBOXaa 299–341UCSCRING-type zinc-finger

Gene Aliases

HGNC Name

RANBP2-type and C3HC4-type zinc finger containing 1

HGNC Alias Symbols

RBCK2; XAP4; RNF54; ZRANB4; UBCE7IP3; HOIL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031229.4
p.V195insFs
c.583_584dupGT
Surrounding Variants
2 papers
NM_031229.4
p.T203A
c.607A>G
1 paper
NM_031229.4
p.R210W
c.628C>T
1 paper
NM_031229.4
p.P194_V195Splc
c.582+1G>C
2 papers
NM_031229.4
p.P190fs
c.568_569fs
2 papers
NM_031229.4
p.Q231delFs
c.691delC
1 paper
NM_031229.4
p.Q231fs
c.691_692fs
2 papers
NM_031229.4
p.Q231fs
c.691_692fs
1 paper
NM_031229.4
p.P232fs
c.694_695fs
2 papers
NM_031229.4
p.D233_E235insFs
c.697_703dup7
13 papers
NM_031229.4
p.Q185*
c.553C>T
1 paper
NM_031229.4
p.E234Q
c.700G>C
2 papers
NM_031229.4
p.E235fs
c.703_704fs
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