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.C519delFs

c.1557delT

Surrounding Variants

9 papers

NM_001143992.2

p.A522insFs

c.1564dupG

4 papers

NM_001143992.2

p.C519fs

c.1555_1556fs

3 papers

NM_001143992.2

p.A522delFs

c.1564delG

1 paper

NM_001143992.2

p.G521W

c.1561G>T

1 paper

NM_001143992.2

p.A522_P523delFs

c.1566_1567delGC

4 papers

NM_001143992.2

p.A522fs

c.1564_1565fs

3 papers

NM_001143992.2

p.A522delFs

c.1565delC

8 papers

NM_001143992.2

p.A522fs

c.1564_1565fs

1 paper

NM_001143992.2

p.A522insFs

c.1566dupG

5 papers

NM_001143992.2

p.A522G

c.1565C>G

1 paper

NM_001143992.2

p.A522A

c.1566G>A

1 paper

NM_001143992.2

p.P523insFs

c.1567_1568insG