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.K797delFs

c.2390delT

Surrounding Variants

1 paper

NM_005802.5

p.K797fs

c.2389_2390fs

1 paper

NM_005802.5

p.K791*

c.2371A>T

1 paper

NM_005802.5

p.E790G

c.2369A>G

2 papers

NM_005802.5

p.N807fs

c.2419_2420fs

2 papers

NM_005802.5

p.V787_R788delFs

c.2361_2362delTC

1 paper

NM_005802.5

p.N807K

c.2421C>G

3 papers

NM_005802.5

p.N807insFs

c.2420_2421insA

1 paper

NM_005802.5

p.N807K

c.2421C>A

6 papers

NM_005802.5

p.E808*

c.2422G>T

2 papers

NM_005802.5

p.R786Q

c.2357G>A

4 papers

NM_005802.5

p.Q811*

c.2431C>T

1 paper

NM_005802.5

p.Q811E

c.2431C>G