Varaico: Literature-Extracted Genetic Variants

Gene:TRIM39
Variant:p.R482W

TRIM39

23 papers

RefSeq Summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil reg...

Pfam Domains

zf-C3HC4_4aa 29–69UCSCzinc finger of C3HC4-type, RING
zf-B_boxaa 102–143UCSCB-box zinc finger
PRYaa 339–388UCSCSPRY-associated domain
SPRYaa 392–509UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 39

HGNC Previous Symbol

RNF23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001369521.2
p.R482W
c.1444A>T
Surrounding Variants
1 paper
NM_001369521.2
p.N475D
c.1423A>G
1 paper
NM_001369521.2
p.I469T
c.1406T>C
1 paper
NM_001369521.2
p.D446V
c.1337A>T
1 paper
NM_001369521.2
p.L266P
c.797T>C
1 paper
NM_001369521.2
p.F256F
c.768C>T
1 paper
NM_001369521.2
p.E217Q
c.649G>C
1 paper
NM_001369521.2
p.R203Q
c.608G>A
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