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

2 papers

NM_005802.5

p.S389A

c.1165T>G

Surrounding Variants

1 paper

NM_005802.5

p.V391A

c.1172T>C

1 paper

NM_005802.5

p.E383_I392del10

c.1147_1175del30

1 paper

NM_005802.5

p.A399S

c.1195G>T

1 paper

NM_005802.5

p.T401I

c.1202C>T

7 papers

NM_005802.5

p.Q402P

c.1205A>C

1 paper

NM_005802.5

p.D375N

c.1123G>A

1 paper

NM_005802.5

p.I406_N407delins

c.1218_1220delinsTAT

1 paper

NM_005802.5

p.V408L

c.1222G>T

1 paper

NM_005802.5

p.V408L

c.1222G>C

1 paper

NM_005802.5

p.Q413P

c.1238A>C

1 paper

NM_005802.5

p.N364D

c.1090A>G

1 paper

NM_005802.5

p.P362R

c.1085C>G