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.G715E

c.2144G>A

Surrounding Variants

1 paper

NM_005802.5

p.D714G

c.2141A>G

1 paper

NM_005802.5

p.D714H

c.2140G>C

1 paper

NM_005802.5

p.R713K

c.2138G>A

1 paper

NM_005802.5

p.S708C

c.2122A>T

1 paper

NM_005802.5

p.S708G

c.2122A>G

1 paper

NM_005802.5

p.T724T

c.2172T>A

2 papers

NM_005802.5

p.E703K

c.2107G>A

1 paper

NM_005802.5

p.Y730S

c.2189A>C

1 paper

NM_005802.5

p.G697_R699del3

c.2089_2096del9

1 paper

NM_005802.5

p.S734fs

c.2200_2201fs

1 paper

NM_005802.5

p.S734delFs

c.2200delA

3 papers

NM_005802.5

p.R693I

c.2078G>T