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.H881Q

c.2643C>A

Surrounding Variants

2 papers

NM_005802.5

p.H881Q

c.2643C>G

1 paper

NM_005802.5

p.S866_T879del14

c.2596_2636del42

1 paper

NM_005802.5

p.T878K

c.2633C>A

1 paper

NM_005802.5

p.K886R

c.2657A>G

1 paper

NM_005802.5

p.H889L

c.2666A>T

3 papers

NM_005802.5

p.H889R

c.2666A>G

3 papers

NM_005802.5

p.H889P

c.2666A>C

2 papers

NM_005802.5

p.V867_V870delFs

c.2599_2609del11

1 paper

NM_005802.5

p.V867L

c.2599G>T

1 paper

NM_005802.5

p.V867L

c.2599G>C

1 paper

NM_005802.5

p.V867fs

c.2599_2600fs

1 paper

NM_005802.5

p.S866delFs

c.2597delC