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

3 papers

NM_005802.5

p.E958V

c.2873A>T

Surrounding Variants

1 paper

NM_005802.5

p.P934L

c.2801C>T

2 papers

NM_005802.5

p.V982delFs

c.2944_2945delAC

1 paper

NM_005802.5

p.P931S

c.2791C>T

2 papers

NM_005802.5

p.N928S

c.2783A>G

1 paper

NM_005802.5

p.E922G

c.2765A>G

1 paper

NM_005802.5

p.E919D

c.2757A>T

1 paper

NM_005802.5

p.E919D

c.2757A>C

2 papers

NM_005802.5

p.D997D

c.2991T>C

1 paper

NM_005802.5

p.V906_V907del2

c.2716_2720del6

1 paper

NM_005802.5

p.V907A

c.2720T>C

1 paper

NM_005802.5

p.V906A

c.2717T>C

1 paper

NM_005802.5

p.S1013R

c.3037A>C