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

Selected Variant

1 paper

NM_005802.5

p.R847delFs

c.2539delG

Surrounding Variants

9 papers

NM_005802.5

p.R847*

c.2539C>T

1 paper

NM_005802.5

p.R847fs

c.2539_2540fs

5 papers

NM_005802.5

p.D850fs

c.2548_2549fs

2 papers

NM_005802.5

p.D850E

c.2550C>G

1 paper

NM_005802.5

p.D850fs

c.2548_2549fs

2 papers

NM_005802.5

p.D850E

c.2550C>A

2 papers

NM_005802.5

p.R851fs

c.2551_2552fs

3 papers

NM_005802.5

p.E852Q

c.2554G>C

12 papers

NM_005802.5

p.E852fs

c.2554_2555fs

8 papers

NM_005802.5

p.D850_R851delFs

c.2550_2553del4

1 paper

NM_005802.5

p.T842fs

c.2524_2525fs

6 papers

NM_005802.5

p.T842insFs

c.2524dupA