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.N838K

c.2514T>A

Surrounding Variants

1 paper

NM_005802.5

p.N838fs

c.2512_2513fs

1 paper

NM_005802.5

p.N838K

c.2514T>G

3 papers

NM_005802.5

p.E839*

c.2515G>T

1 paper

NM_005802.5

p.N838fs

c.2512_2513fs

3 papers

NM_005802.5

p.N838_E839delFs

c.2514_2515delCA

1 paper

NM_005802.5

p.E839E

c.2517G>A

4 papers

NM_001195622.2

p.S775delFs

c.2323_2324delCT

NM_005802.5

p.S840delFs

c.2518_2519delCT

1 paper

NM_005802.5

p.Y836*

c.2508C>G

1 paper

NM_005802.5

p.Y836*

c.2508C>A

3 papers

NM_005802.5

p.Y836C

c.2507A>G

1 paper

NM_005802.5

p.D841insFs

c.2522_2523insA

4 papers

NM_005802.5

p.T842fs

c.2524_2525fs