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.V128_W131delFs

c.383_392del10

Surrounding Variants

1 paper

NM_005802.5

p.V128I

c.382G>A

1 paper

NM_005802.5

p.K142insFs

c.426dupA

1 paper

NM_005802.5

p.C119Y

c.356G>A

1 paper

NM_005802.5

p.P144L

c.431C>T

1 paper

NM_005802.5

p.R118C

c.352C>T

1 paper

NM_005802.5

p.D117N

c.349G>A

1 paper

NM_005802.5

p.V113insFs

c.339dupG

1 paper

NM_005802.5

p.V113M

c.337G>A

1 paper

NM_005802.5

p.C106_D111del6

c.316_332del18

1 paper

NM_005802.5

p.R109S

c.327A>T

1 paper

NM_005802.5

p.R109S

c.327A>C

1 paper

NM_005802.5

p.R153insFs

c.459dupG