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.L344S

c.1031T>C

Surrounding Variants

1 paper

NM_005802.5

p.R341K

c.1022G>A

1 paper

NM_005802.5

p.H353Y

c.1057C>T

2 papers

NM_005802.5

p.R360Q

c.1079G>A

1 paper

NM_005802.5

p.P362R

c.1085C>G

1 paper

NM_005802.5

p.N364D

c.1090A>G

1 paper

NM_005802.5

p.I321V

c.961A>G

1 paper

NM_005802.5

p.V318D

c.953T>A

1 paper

NM_005802.5

p.D375N

c.1123G>A

1 paper

NM_005802.5

p.H311R

c.932A>G

1 paper

NM_005802.5

p.L304H

c.911T>A

1 paper

NM_005802.5

p.R302_E303delFs

c.906_907delCA

1 paper

NM_005802.5

p.R302P

c.905G>C