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.E252insFs

c.756dupA

Surrounding Variants

1 paper

NM_005802.5

p.Q253fs

c.757_758fs

1 paper

NM_005802.5

p.D254Y

c.760G>T

1 paper

NM_005802.5

p.I256N

c.767T>A

2 papers

NM_005802.5

p.R248W

c.742C>T

1 paper

NM_005802.5

p.S246C

c.737C>G

1 paper

NM_005802.5

p.R260*

c.778C>T

1 paper

NM_005802.5

p.P239S

c.715C>T

1 paper

NM_005802.5

p.A267V

c.800C>T

1 paper

NM_005802.5

p.N271S

c.812A>G

1 paper

NM_005802.5

p.I272V

c.814A>G

1 paper

NM_005802.5

p.I272T

c.815T>C

2 papers

NM_005802.5

p.R277C

c.829C>T