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.V513L

c.1537G>C

Surrounding Variants

1 paper

NM_005802.5

p.V513L

c.1537G>T

2 papers

NM_005802.5

p.T515A

c.1543A>G

2 papers

NM_005802.5

p.K509E

c.1525A>G

1 paper

NM_005802.5

p.Q520Q

c.1560A>G

1 paper

NM_005802.5

p.D528N

c.1582G>A

1 paper

NM_005802.5

p.V495A

c.1484T>C

1 paper

NM_005802.5

p.P535L

c.1604C>T

1 paper

NM_005802.5

p.S537A

c.1609T>G

1 paper

NM_005802.5

p.V484A

c.1451T>C

1 paper

NM_005802.5

p.V481A

c.1442T>C

1 paper

NM_005802.5

p.I480V

c.1438A>G

1 paper

NM_005802.5

p.V479A

c.1436T>C