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.P23A

c.67C>G

Surrounding Variants

1 paper

NM_005802.5

p.P23H

c.68C>A

1 paper

NM_005802.5

p.A24S

c.70G>T

1 paper

NM_005802.5

p.P21fs

c.61_62fs

1 paper

NM_005802.5

p.P21S

c.61C>T

1 paper

NM_005802.5

p.P20insFs

c.60dupG

1 paper

NM_005802.5

p.P20insFs

c.59dupC

6 papers

NM_005802.5

p.S25W

c.74C>G

1 paper

NM_005802.5

p.E26*

c.76G>T

5 papers

NM_005802.5

p.P20S

c.58C>T

1 paper

NM_005802.5

p.G27R

c.79G>C

1 paper

NM_005802.5

p.E17K

c.49G>A

1 paper

NM_005802.5

p.G16D

c.47G>A