Varaico: Literature-Extracted Genetic Variants

WRAP53

190 papers

RefSeq Summary

This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of R...

Pfam Domains

WD40aa 162–197UCSCWD domain, G-beta repeat

WD40aa 270–304UCSCWD domain, G-beta repeat

WD40aa 357–396UCSCWD domain, G-beta repeat

WD40aa 413–441UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat containing antisense to TP53

HGNC Previous Symbol

WDR79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001143992.2

p.E163delFs

c.488_489delAG

Surrounding Variants

8 papers

NM_001143992.2

p.F164L

c.490T>C

1 paper

NM_001143992.2

p.F164_T166delFs

c.491_498del8

8 papers

NM_001143992.2

p.F164L

c.492C>A

8 papers

NM_001143992.2

p.F164L

c.492C>G

1 paper

NM_001143992.2

p.F156S

c.467T>C

2 papers

NM_001143992.2

p.R155*

c.463C>T

1 paper

NM_001143992.2

p.L153V

c.457C>G

3 papers

NM_001143992.2

p.F150F

c.450C>T

2 papers

NM_001143992.2

p.W146*

c.438G>A

2 papers

NM_001143992.2

p.W146*

c.437G>A

1 paper

NM_001143992.2

p.G142E

c.425G>A

1 paper

NM_001143992.2

p.A137T

c.409G>A