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.A23T

c.67G>A

Surrounding Variants

1 paper

NM_001143992.2

p.P20A

c.58C>G

1 paper

NM_001143992.2

p.S16S

c.48A>G

1 paper

NM_001143992.2

p.P31P

c.93G>A

1 paper

NM_001143992.2

p.D12D

c.36C>T

2 papers

NM_001143992.2

p.P11S

c.31C>T

1 paper

NM_001143992.2

p.Q7fs

c.19_20fs

1 paper

NM_001143992.2

p.Q7*

c.19C>T

4 papers

NM_001143992.2

p.T6delFs

c.17_18delCT

1 paper

NM_001143992.2

p.P42P

c.126A>G

1 paper

NM_001143992.2

p.P42P

c.126A>T

1 paper

NM_001143992.2

p.T3P

c.7A>C

1 paper

NM_001143992.2

p.K2*

c.4A>T