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.H824Y

c.2470C>T

Surrounding Variants

1 paper

NM_005802.5

p.S823G

c.2467A>G

6 papers

NM_005802.5

p.Y825*

c.2475C>G

2 papers

NM_005802.5

p.Y825fs

c.2473_2474fs

10 papers

NM_005802.5

p.Y825insFs

c.2474dupA

6 papers

NM_005802.5

p.Y825*

c.2475C>A

2 papers

NM_005802.5

p.S828F

c.2483C>T

1 paper

NM_005802.5

p.S829L

c.2486C>T

1 paper

NM_005802.5

p.S818C

c.2453C>G

4 papers

NM_005802.5

p.S828_S829del1

c.2484_2486delGAA

1 paper

NM_005802.5

p.S818insFs

c.2452_2453insA

1 paper

NM_005802.5

p.S818fs

c.2452_2453fs

2 papers

NM_005802.5

p.S830*

c.2489C>G