Varaico: Literature-Extracted Genetic Variants

TOPORS

217 papers

RefSeq Summary

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligas...

Pfam Domains

zf-C3HC4aa 103–141UCSCZinc finger, C3HC4 type (RING finger)

PWI_Toporsaa 284–361UCSCTopors, PWI-like domain

Gene Aliases

HGNC Name

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

HGNC Previous Symbol

RP31

Papers

RefSeq ID

Protein change

DNA change

1–12 of 330 variants

12 papers

NM_005802.5

p.E852fs

c.2554_2555fs

12 papers

NM_005802.5

p.E852_T853delFs

c.2556_2557delTC

10 papers

NM_005802.5

p.Y825insFs

c.2474dupA

9 papers

NM_005802.5

p.R847*

c.2539C>T

9 papers

NM_005802.5

p.E852_T853delFs

c.2554_2557del4

8 papers

NM_005802.5

p.D850_R851delFs

c.2550_2553del4

7 papers

NM_005802.5

p.Q402P

c.1205A>C

6 papers

NM_005802.5

p.S25W

c.74C>G

6 papers

NM_005802.5

p.E808*

c.2422G>T

6 papers

NM_005802.5

p.Y825*

c.2475C>G

6 papers

NM_005802.5

p.Y825*

c.2475C>A

6 papers

NM_005802.5

p.T842insFs

c.2524dupA