Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.C371insFs

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
3 papers
NM_031229.4
p.C371insFs
c.1111dupT
Surrounding Variants
1 paper
NM_001323956.2
p.H200insFs
c.598_599insT
1 paper
NM_031229.4
p.C371F
c.1112G>T
1 paper
NM_031229.4
p.E383A
c.1148A>C
1 paper
NM_031229.4
p.D384A
c.1151A>C
1 paper
NM_031229.4
p.D385A
c.1154A>C
1 paper
NM_031229.4
p.N387T
c.1160A>C
12 papers
NM_031229.4
p.N387S
c.1160A>G
1 paper
NM_031229.4
p.N387K
c.1161T>A
1 paper
NM_031229.4
p.N387K
c.1161T>G
11 papers
NM_031229.4
p.R352*
c.1054C>T
1 paper
NM_031229.4
p.E388E
c.1164G>A
1 paper
NM_001323956.2
p.L231delFs
c.691delC
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