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.D601H

c.1801G>C

Surrounding Variants

3 papers

NM_005802.5

p.S606R

c.1816A>C

3 papers

NM_005802.5

p.S606R

c.1818T>G

3 papers

NM_005802.5

p.S606R

c.1818T>A

1 paper

NM_005802.5

p.N588Y

c.1762A>T

1 paper

NM_005802.5

p.K617Q

c.1849A>C

1 paper

NM_005802.5

p.H619D

c.1855C>G

1 paper

NM_005802.5

p.H619Q

c.1857T>G

1 paper

NM_005802.5

p.H619Q

c.1857T>A

4 papers

NM_005802.5

p.S577Y

c.1730C>A

1 paper

NM_005802.5

p.R628Q

c.1883G>A

1 paper

NM_005802.5

p.P571L

c.1712C>T

1 paper

NM_005802.5

p.R632R

c.1896G>A