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.D833V

c.2498A>T

Surrounding Variants

2 papers

NM_005802.5

p.S830del1

c.2488_2489delTGA

1 paper

NM_005802.5

p.S828_S829del2

c.2482_2486del6

2 papers

NM_005802.5

p.S830*

c.2489C>G

2 papers

NM_005802.5

p.S830*

c.2489C>A

3 papers

NM_005802.5

p.Y836C

c.2507A>G

1 paper

NM_005802.5

p.Y836*

c.2508C>G

1 paper

NM_005802.5

p.Y836*

c.2508C>A

4 papers

NM_005802.5

p.S828_S829del1

c.2484_2486delGAA

1 paper

NM_005802.5

p.S829L

c.2486C>T

1 paper

NM_005802.5

p.N838fs

c.2512_2513fs

2 papers

NM_005802.5

p.S828F

c.2483C>T

1 paper

NM_005802.5

p.N838fs

c.2512_2513fs