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.P1029S

c.3085C>T

Surrounding Variants

1 paper

NM_005802.5

p.S1028L

c.3083C>T

3 papers

NM_005802.5

p.R1030Q

c.3089G>A

1 paper

NM_005802.5

p.R1030insFs

c.3090dupG

1 paper

NM_005802.5

p.T1031fs

c.3091_3092fs

1 paper

NM_005802.5

p.T1031I

c.3092C>T

1 paper

NM_005802.5

p.T1031delFs

c.3092delG

1 paper

NM_005802.5

p.S1032L

c.3095C>T

2 papers

NM_005802.5

p.Q1019E

c.3055C>G

1 paper

NM_005802.5

p.C1042*

c.3126T>A

1 paper

NM_005802.5

p.C1042_D1043delFs

c.3126_3127delCA

1 paper

NM_005802.5

p.S1013R

c.3039T>G

1 paper

NM_005802.5

p.S1013R

c.3039T>A