Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.Q255H

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.Q255H
c.765G>C
Surrounding Variants
1 paper
NM_031229.4
p.Q255H
c.765G>T
1 paper
NM_031229.4
p.Q258*
c.772C>T
5 papers
NM_031229.4
p.Q264*
c.790C>T
1 paper
NM_031229.4
p.H265R
c.794A>G
4 papers
NM_031229.4
p.Q267*
c.799C>T
2 papers
NM_031229.4
p.L273insFs
c.817dupC
1 paper
NM_031229.4
p.L273fs
c.817_818fs
2 papers
NM_031229.4
p.L273fs
c.817_818fs
1 paper
NM_031229.4
p.P283L
c.848C>T
1 paper
NM_031229.4
p.V284A
c.851T>C
1 paper
NM_031229.4
p.A290V
c.869C>T
1 paper
NM_031229.4
p.E293K
c.877G>A
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