Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.A12delFs

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.A12delFs
c.35delC
Surrounding Variants
1 paper
NM_031229.4
p.S14N
c.41G>A
1 paper
NM_031229.4
p.R17G
c.49C>G
2 papers
NM_031229.4
p.R17Q
c.50G>A
10 papers
NM_031229.4
p.A18P
c.52G>C
1 paper
NM_031229.4
p.D23E
c.69T>A
1 paper
NM_031229.4
p.D23E
c.69T>G
1 paper
NM_031229.4
p.E24delFs
c.72delA
1 paper
NM_031229.4
p.V26M
c.76G>A
1 paper
NM_031229.4
p.K29N
c.87G>C
1 paper
NM_031229.4
p.C30R
c.88T>C
1 paper
NM_031229.4
p.C30G
c.88T>G
1 paper
NM_031229.4
p.A35V
c.104C>T
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