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.S666R

c.1996A>C

Surrounding Variants

1 paper

NM_005802.5

p.S666R

c.1998C>G

1 paper

NM_005802.5

p.S666R

c.1998C>A

1 paper

NM_005802.5

p.S663N

c.1988G>A

3 papers

NM_005802.5

p.R673C

c.2017C>T

1 paper

NM_005802.5

p.R673H

c.2018G>A

1 paper

NM_005802.5

p.S675C

c.2023A>T

1 paper

NM_005802.5

p.D676delFs

c.2026delC

2 papers

NM_005802.5

p.H677Y

c.2029C>T

1 paper

NM_005802.5

p.R681K

c.2042G>A

4 papers

NM_005802.5

p.R683W

c.2047C>T

2 papers

NM_005802.5

p.S684G

c.2050A>G

1 paper

NM_005802.5

p.D688insFs

c.2063dupA