Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.P194_V195Splc

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.P194_V195Splc
c.582+1G>C
Surrounding Variants
2 papers
NM_031229.4
p.P190fs
c.568_569fs
13 papers
NM_031229.4
p.Q185*
c.553C>T
1 paper
NM_031229.4
p.Q179fs
c.535_536fs
1 paper
NM_031229.4
p.P172T
c.514C>A
1 paper
NM_031229.4
p.P167L
c.500C>T
1 paper
NM_031229.4
p.G166fs
c.496_497fs
1 paper
NM_031229.4
p.G166fs
c.496_497fs
1 paper
NM_031229.4
p.V195insFs
c.583_584dupGT
6 papers
NM_031229.4
p.R165delFs
c.494delG
1 paper
NM_031229.4
p.P164S
c.490C>T
1 paper
NM_031229.4
p.T161M
c.482C>T
2 papers
NM_031229.4
p.T203A
c.607A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."