Varaico: Literature-Extracted Genetic Variants

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

1–12 of 16 variants

1 paper

NM_001369521.2

p.C49S

c.145T>A

1 paper

NM_001369521.2

p.C49S

c.146G>C

1 paper

NM_001369521.2

p.C52S

c.154T>A

1 paper

NM_001369521.2

p.C52S

c.155G>C

1 paper

NM_001369521.2

p.K71N

c.213G>C

1 paper

NM_001369521.2

p.K71N

c.213G>T

1 paper

NM_001369521.2

p.P142Q

c.425C>A

1 paper

NM_001369521.2

p.Q148R

c.443A>G

1 paper

NM_001369521.2

p.R203Q

c.608G>A

1 paper

NM_001369521.2

p.E217Q

c.649G>C

1 paper

NM_001369521.2

p.F256F

c.768C>T

1 paper

NM_001369521.2

p.L266P

c.797T>C