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.N755insFs

c.2264dupA

Surrounding Variants

1 paper

NM_005802.5

p.H756D

c.2266C>G

1 paper

NM_005802.5

p.N755S

c.2264A>G

2 papers

NM_005802.5

p.N754insFs

c.2261dupA

1 paper

NM_005802.5

p.N754delFs

c.2261delT

1 paper

NM_005802.5

p.S757N

c.2270G>A

2 papers

NM_005802.5

p.R759M

c.2276G>T

1 paper

NM_005802.5

p.R751_K752insFs

c.2253_2254insA

1 paper

NM_005802.5

p.N749_A750delins

c.2245_2248delinsTGAG

2 papers

NM_005802.5

p.N749D

c.2245A>G

1 paper

NM_005802.5

p.Y763_Y764del1

c.2289_2291delTAG

1 paper

NM_005802.5

p.H767D

c.2299C>G

1 paper

NM_005802.5

p.S743_F744insFs

c.2229_2230insT