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.I272T

c.815T>C

Surrounding Variants

1 paper

NM_005802.5

p.I272V

c.814A>G

1 paper

NM_005802.5

p.N271S

c.812A>G

2 papers

NM_005802.5

p.R277C

c.829C>T

1 paper

NM_005802.5

p.G276_R277delFs

c.828_829delGG

1 paper

NM_005802.5

p.A267V

c.800C>T

1 paper

NM_005802.5

p.Y278N

c.832T>A

1 paper

NM_005802.5

p.S282L

c.845C>T

1 paper

NM_005802.5

p.R260*

c.778C>T

1 paper

NM_005802.5

p.F285C

c.854T>G

1 paper

NM_005802.5

p.F286S

c.857T>C

1 paper

NM_005802.5

p.R287C

c.859C>T

1 paper

NM_005802.5

p.R287H

c.860G>A