Varaico: Literature-Extracted Genetic Variants

Gene:RFFL
Variant:p.K48R

RFFL

26 papers

Pfam Domains

FYVE_CARP1-2aa 48–93UCSCE3 ubiquitin-protein ligase CARP1/2, FYVE/PHD zinc finger
SAP_RNF34_RFFLaa 94–143UCSCRNF34/RFFL SAP domain
RNF34L-like_3rdaa 243–294UCSCE3 ubiquitin-protein ligase rififylin-like domain
zf-C3HC4_3aa 312–357UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger and FYVE like domain containing E3 ubiquitin protein ligase

HGNC Alias Symbols

rififylin; fring; RNF189; RNF34L; CARP2; CARP-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017368.2
p.K48R
c.143A>G
Surrounding Variants
1 paper
NM_001017368.2
p.C50Y
c.149G>A
1 paper
NM_001017368.2
p.T41I
c.122C>T
1 paper
NM_001017368.2
p.T57M
c.170C>T
1 paper
NM_001017368.2
p.S75A
c.223T>G
1 paper
NM_001017368.2
p.N195K
c.585T>G
1 paper
NM_001017368.2
p.N195K
c.585T>A
1 paper
NM_001017368.2
p.T224N
c.671C>A
1 paper
NM_001017368.2
p.S240P
c.718T>C
1 paper
NM_001017368.2
p.S240C
c.719C>G
1 paper
NM_001017368.2
p.L241V
c.721C>G
1 paper
NM_001017368.2
p.D243A
c.728A>C
1 paper
NM_001017368.2
p.R281T
c.842G>C
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