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.S112N

c.335G>A

Surrounding Variants

1 paper

NM_001143992.2

p.E115K

c.343G>A

1 paper

NM_001143992.2

p.E108K

c.322G>A

1 paper

NM_001143992.2

p.A106V

c.317C>T

1 paper

NM_001143992.2

p.S103G

c.307A>G

1 paper

NM_001143992.2

p.T102I

c.305C>T

1 paper

NM_001143992.2

p.G126_E139delFs

c.378_415del38

1 paper

NM_001143992.2

p.E94_T102delFs

c.281_306del26

1 paper

NM_001143992.2

p.T132N

c.395C>A

1 paper

NM_001143992.2

p.T132I

c.395C>T

1 paper

NM_001143992.2

p.R92G

c.274C>G

3 papers

NM_001143992.2

p.P136R

c.407C>G

2 papers

NM_001143992.2

p.P136P

c.408C>G