Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1

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
1–12 of 153 variants
13 papers
NM_031229.4
p.Q185*
c.553C>T
12 papers
NM_031229.4
p.E299_C300delFs
c.896_899del4
12 papers
NM_031229.4
p.N387S
c.1160A>G
11 papers
NM_031229.4
p.R352*
c.1054C>T
10 papers
NM_031229.4
p.A18P
c.52G>C
10 papers
NM_031229.4
p.E243*
c.727G>T
9 papers
NM_031229.4
p.E299fs
c.895_896fs
7 papers
NM_031229.4
p.L41delFs
c.121_122delCT
6 papers
NM_031229.4
p.R165delFs
c.494delG
5 papers
NM_031229.4
p.D2insFs
c.4_5insG
5 papers
NM_031229.4
p.A241delFs
c.722delC
5 papers
NM_031229.4
p.E243fs
c.727_728fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."