Varaico: Literature-Extracted Genetic Variants

Gene:TRIM54
Variant:p.C199S

TRIM54

45 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and...

Pfam Domains

zf-RING_UBOXaa 26–79UCSCRING-type zinc-finger
zf-B_boxaa 121–163UCSCB-box zinc finger

Gene Aliases

HGNC Name

tripartite motif containing 54

HGNC Previous Symbol

RNF30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_187841.3
p.C199S
c.596G>C
Surrounding Variants
1 paper
NM_187841.3
p.E203E
c.609G>A
1 paper
NM_187841.3
p.I178T
c.533T>C
1 paper
NM_187841.3
p.E218K
c.652G>A
1 paper
NM_187841.3
p.R247C
c.739C>T
1 paper
NM_187841.3
p.E258K
c.772G>A
1 paper
NM_187841.3
p.S308N
c.923G>A
1 paper
NM_187841.3
p.G334R
c.1000G>A
1 paper
NM_187841.3
p.G334R
c.1000G>C
1 paper
NM_187841.3
p.E336Q
c.1006G>C
1 paper
NM_187841.3
p.V339M
c.1015G>A
1 paper
NM_187841.3
p.D356Y
c.1066G>T
2 papers
NM_187841.3
p.L163P
c.488T>C
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