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.A56T

c.166G>A

Surrounding Variants

1 paper

NM_005802.5

p.S55N

c.164G>A

1 paper

NM_005802.5

p.A53_A54ins1

c.159_160insTAA

1 paper

NM_005802.5

p.A53S

c.157G>T

2 papers

NM_005802.5

p.S45I

c.134G>T

1 paper

NM_005802.5

p.R41*

c.121C>T

1 paper

NM_005802.5

p.G38*

c.112G>T

1 paper

NM_005802.5

p.R37C

c.109C>T

1 paper

NM_005802.5

p.L36R

c.107T>G

1 paper

NM_005802.5

p.V34I

c.100G>A

1 paper

NM_005802.5

p.G27R

c.79G>C

1 paper

NM_005802.5

p.E26*

c.76G>T

6 papers

NM_005802.5

p.S25W

c.74C>G