Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.A241fs

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
4 papers
NM_031229.4
p.A241fs
c.721_722fs
Surrounding Variants
1 paper
NM_031229.4
p.A241fs
c.721_722fs
5 papers
NM_031229.4
p.A241delFs
c.722delC
1 paper
NM_031229.4
p.A241_E244insFs
c.723_730dup8
1 paper
NM_031229.4
p.L240P
c.719T>C
3 papers
NM_031229.4
p.E243insFs
c.727_728ins4
1 paper
NM_031229.4
p.E243fs
c.727_728fs
10 papers
NM_031229.4
p.E243*
c.727G>T
5 papers
NM_031229.4
p.E243fs
c.727_728fs
1 paper
NM_031229.4
p.E244insFs
c.730dupG
1 paper
NM_031229.4
p.E244fs
c.730_731fs
1 paper
NM_031229.4
p.E244fs
c.730_731fs
2 papers
NM_031229.4
p.A246_R248delFs
c.736_743del8
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